| geneid | 29974 |
|---|---|
| ensemblid | ENSG00000148584.16 |
| hgncid | 24086 |
| symbol | A1CF |
| name | APOBEC1 complementation factor |
| refseq_nuc | NM_014576.4 |
| refseq_prot | NP_055391.2 |
| ensembl_nuc | ENST00000373997.8 |
| ensembl_prot | ENSP00000363109.3 |
| mane_status | MANE Select |
| chr | chr10 |
| start | 50799409 |
| end | 50885627 |
| strand | - |
| ver | v1.2 |
| region | chr10:50799409-50885627 |
| region5000 | chr10:50794409-50890627 |
| regionname0 | A1CF_chr10_50799409_50885627 |
| regionname5000 | A1CF_chr10_50794409_50890627 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:50806851
|
C | T | 0.0355 | missense_variant | MODERATE | HG00639.hp1 HG02055.hp2 HG02145.hp1 others(9): Show |
a0002 | a0002c0004a0002c0006 | a0002c0004t0006a0002c0004t0018a0002c0004t0044others(2): Show | a0002c0004t0006g0032a0002c0004t0006g0212a0002c0004t0006g0226others(8): Show | 12 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.1639G>A | p.Val547Met | 1779/9221 | 1639/1761 | 547/586 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:50799874
|
A | G | 0.1598 | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00621.hp1 others(51): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0016a0001c0001t0017a0001c0002t0004others(9): Show | a0001c0001t0016g0040a0001c0001t0016g0041a0001c0001t0017g0266others(45): Show | 54 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*6855T>C | 6855 | |||||
|
chr10:50800083
|
T | G | 0.8491 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(241): Show | 287 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*6646A>C | 6646 | |||||
|
chr10:50800699
|
G | A | 0.9970 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(334): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(283): Show | 337 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*6030C>T | 6030 | |||||
|
chr10:50800797
|
G | A | 0.8491 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(241): Show | 287 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*5932C>T | 5932 | |||||
|
chr10:50800898
|
A | T | 0.0414 | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02145.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0006 | a0001c0001t0016a0002c0004t0006a0002c0004t0018others(3): Show | a0001c0001t0016g0040a0001c0001t0016g0041a0002c0004t0006g0032others(10): Show | 14 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*5831T>A | 5831 | |||||
|
chr10:50801395
|
T | A | 0.0414 | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02145.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004others(1): Show | a0001c0001t0017a0001c0008t0017a0002c0004t0006others(4): Show | a0001c0001t0017g0266a0001c0008t0017g0042a0002c0004t0006g0032others(10): Show | 14 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*5334A>T | 5334 | |||||
|
chr10:50802069
|
C | A | 0.8491 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(241): Show | 287 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*4660G>T | 4660 | |||||
|
chr10:50803269
|
G | GT | 0.0740 | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01981.hp2 HG02055.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0014a0001c0001t0017a0001c0001t0025others(13): Show | a0001c0001t0014g0252a0001c0001t0014g0279a0001c0001t0017g0266others(21): Show | 25 | 338 | 1 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*3459dupA | 3459 | |||||
|
chr10:50804661
|
G | A | 0.8284 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(235): Show | 280 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*2068C>T | 2068 | |||||
|
chr10:50806180
|
A | C | 0.8343 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(279): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(237): Show | 282 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*549T>G | 549 | |||||
|
chr10:50806289
|
T | C | 0.0473 | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02145.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004others(1): Show | a0001c0001t0016a0001c0001t0017a0001c0008t0017others(5): Show | a0001c0001t0016g0040a0001c0001t0016g0041a0001c0001t0017g0266others(12): Show | 16 | 338 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | c.*440A>G | 440 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:50807215
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(300): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(255): Show | 303 | 338 | 0.8965 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 12/12 | c.1610-335C>A | ||||||
|
chr10:50808105
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(286): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(243): Show | 289 | 338 | 0.8550 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 12/12 | c.1610-1225T>C | ||||||
|
chr10:50808118
|
T | C | intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0269 | 1 | 338 | 0.0030 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 12/12 | c.1610-1238A>G | ||||||
|
chr10:50808856
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(284): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(241): Show | 287 | 338 | 0.8491 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 12/12 | c.1609+1038A>G | ||||||
|
chr10:50810983
|
T | G | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02145.hp1 others(5): Show |
a0002 | a0002c0004a0002c0006 | a0002c0004t0006a0002c0006t0006 | a0002c0004t0006g0032a0002c0004t0006g0212a0002c0004t0006g0226others(4): Show | 8 | 338 | 0.0237 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 11/12 | c.1460+57A>C | ||||||
|
chr10:50811287
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(334): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(283): Show | 337 | 338 | 0.9970 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 10/12 | c.1324-111G>A | ||||||
|
chr10:50811742
|
C | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(300): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(255): Show | 303 | 338 | 0.8965 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 10/12 | c.1324-566G>C | ||||||
|
chr10:50816308
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(289): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(244): Show | 292 | 338 | 0.8639 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 8/12 | c.868-29C>T | ||||||
|
chr10:50816830
|
T | C | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02145.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004others(1): Show | a0001c0001t0017a0001c0008t0017a0002c0004t0006others(4): Show | a0001c0001t0017g0266a0001c0008t0017g0042a0002c0004t0006g0032others(10): Show | 14 | 338 | 0.0414 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 8/12 | c.868-551A>G | ||||||
|
chr10:50817493
|
G | A | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02145.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004others(1): Show | a0001c0001t0017a0001c0008t0017a0002c0004t0006others(4): Show | a0001c0001t0017g0266a0001c0008t0017g0042a0002c0004t0006g0032others(10): Show | 14 | 338 | 0.0414 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 8/12 | c.868-1214C>T | ||||||
|
chr10:50817596
|
G | A | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02145.hp1 others(6): Show |
a0002 | a0002c0004a0002c0006 | a0002c0004t0006a0002c0004t0044a0002c0006t0006 | a0002c0004t0006g0032a0002c0004t0006g0212a0002c0004t0006g0226others(5): Show | 9 | 338 | 0.0266 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 8/12 | c.868-1317C>T | ||||||
|
chr10:50818518
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(324): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(274): Show | 327 | 338 | 0.9675 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 8/12 | c.867+2034G>A | ||||||
|
chr10:50818978
|
A | G | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00735.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0140a0001c0001t0002g0051a0001c0001t0002g0162others(63): Show | 77 | 338 | 0.2278 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 8/12 | c.867+1574T>C | ||||||
|
chr10:50824350
|
T | C | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00735.hp2 others(57): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0276a0001c0001t0003g0008a0001c0001t0003g0018others(46): Show | 60 | 338 | 0.1775 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 7/12 | c.770-3701A>G | ||||||
|
chr10:50826860
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(327): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(276): Show | 330 | 338 | 0.9763 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 7/12 | c.769+1271A>G | ||||||
|
chr10:50831887
|
G | A | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00735.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0276a0001c0001t0003g0018a0001c0001t0003g0033others(41): Show | 53 | 338 | 0.1568 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 6/12 | c.605-3592C>T | ||||||
|
chr10:50836795
|
T | C | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00735.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0225a0001c0001t0001g0276a0001c0001t0003g0018others(43): Show | 55 | 338 | 0.1627 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 5/12 | c.366-483A>G | ||||||
|
chr10:50840035
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(328): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(277): Show | 331 | 338 | 0.9793 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 5/12 | c.365+1827A>G | ||||||
|
chr10:50843899
|
C | T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00741.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(5): Show | a0001c0001t0003g0018a0001c0001t0003g0263a0001c0001t0003g0270others(28): Show | 39 | 338 | 0.1154 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 4/12 | c.234+89G>A | ||||||
|
chr10:50844563
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(332): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(281): Show | 335 | 338 | 0.9911 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | c.100-441T>G | ||||||
|
chr10:50850592
|
T | TTG | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00735.hp2 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0276a0001c0001t0003g0018a0001c0001t0003g0033others(57): Show | 72 | 338 | 0.2130 | 2 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | c.100-6472_100-6471dupCA | ||||||
|
chr10:50852341
|
G | A | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00735.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0276a0001c0001t0003g0018a0001c0001t0003g0033others(41): Show | 53 | 338 | 0.1568 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | c.99+7501C>T | ||||||
|
chr10:50853275
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(332): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(281): Show | 335 | 338 | 0.9911 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | c.99+6567G>A | ||||||
|
chr10:50853804
|
A | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(299): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(252): Show | 302 | 338 | 0.8935 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | c.99+6038T>A | ||||||
|
chr10:50853823
|
TA | T | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00735.hp2 others(51): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0276a0001c0001t0003g0018a0001c0001t0003g0033others(42): Show | 54 | 338 | 0.1598 | -1 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | c.99+6018delT | ||||||
|
chr10:50860705
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(315): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(265): Show | 318 | 338 | 0.9408 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 2/12 | c.-45-720C>T | ||||||
|
chr10:50861856
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(325): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(274): Show | 328 | 338 | 0.9704 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 2/12 | c.-45-1871T>C | ||||||
|
chr10:50861992
|
G | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00741.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(4): Show | a0001c0001t0003g0018a0001c0001t0003g0263a0001c0001t0003g0270others(27): Show | 38 | 338 | 0.1124 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 2/12 | c.-45-2007C>G | ||||||
|
chr10:50870425
|
G | A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(126): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0169a0001c0001t0001g0189others(103): Show | 129 | 338 | 0.3817 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-93-6345C>T | ||||||
|
chr10:50870665
|
G | C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(127): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0004a0001c0001t0001g0169a0001c0001t0001g0189others(104): Show | 130 | 338 | 0.3846 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-93-6585C>G | ||||||
|
chr10:50870968
|
T | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(328): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(277): Show | 331 | 338 | 0.9793 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-93-6888A>T | ||||||
|
chr10:50871981
|
A | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(332): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(281): Show | 335 | 338 | 0.9911 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-93-7901T>A | ||||||
|
chr10:50872946
|
CT | C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(107): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0004a0001c0001t0001g0024a0001c0001t0001g0099others(86): Show | 110 | 338 | 0.3254 | -1 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-93-8867delA | ||||||
|
chr10:50873248
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(288): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(241): Show | 291 | 338 | 0.8610 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-93-9168C>A | ||||||
|
chr10:50879173
|
T | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(278): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0020others(236): Show | 281 | 338 | 0.8314 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+6408A>C | ||||||
|
chr10:50880116
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(334): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(283): Show | 337 | 338 | 0.9970 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+5465G>A | ||||||
|
chr10:50881804
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(318): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(267): Show | 321 | 338 | 0.9497 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+3777A>G | ||||||
|
chr10:50882028
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(318): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(267): Show | 321 | 338 | 0.9497 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+3553A>C | ||||||
|
chr10:50883318
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(258): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0020others(219): Show | 261 | 338 | 0.7722 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+2263T>C | ||||||
|
chr10:50883461
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(258): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0020others(219): Show | 261 | 338 | 0.7722 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+2120A>G | ||||||
|
chr10:50884062
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(323): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(272): Show | 326 | 338 | 0.9645 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+1519T>C | ||||||
|
chr10:50884324
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(323): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(272): Show | 326 | 338 | 0.9645 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+1257C>T | ||||||
|
chr10:50884716
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(323): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(272): Show | 326 | 338 | 0.9645 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+865A>G | ||||||
|
chr10:50885488
|
G | A | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00735.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259others(31): Show | 42 | 338 | 0.1243 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+93C>T |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 0/0 | a0002 | 586 | 12 | 11 | 1 | 0 | 0 | 0 | subcellular location copy fasta | chr10 | 50794409 | 50890627 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 0/0 | c0004 | 1761 | 9 | 8 | 1 | 0 | 0 | 0 | copy fasta | chr10 | 50794409 | 50890627 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 0/0 | t0006 | 7462 | 8 | 7 | 1 | 0 | 0 | 0 | copy fasta | chr10 | 50794409 | 50890627 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 0/0 | g0269 | 1 | 0 | 1 | 0 | 0 | 0 | chr10 | 50794409 | 50890627 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 0/0 | a0002c0004 | 9 | 8 | 1 | 0 | 0 | 0 | 1761 | copy fasta | chr10 | 50794409 | 50890627 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 0/0 | a0002c0004t0006 | 5 | 4 | 1 | 0 | 0 | 0 | 9222 | copy fasta | chr10 | 50794409 | 50890627 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 0/0 | a0002c0004t0006g0269 | 1 | 0 | 1 | 0 | 0 | 0 | chr10 | 50794409 | 50890627 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 50864033 | - | 2 | -0.2409 | -0.2409 | -0.2409 | 0.0000 | acceptor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50864080 | - | 2 | 0.3904 | 0.3904 | 0.3904 | 0.0000 | donor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50859842 | - | 3 | -0.7494 | -0.7494 | -0.7494 | 0.0000 | acceptor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50859985 | - | 3 | 0.8132 | 0.8132 | 0.8132 | 0.0000 | donor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50843988 | - | 4 | -0.9976 | -0.9976 | -0.9976 | 0.0000 | acceptor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50844122 | - | 4 | 0.9886 | 0.9886 | 0.9886 | 0.0000 | donor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50841862 | - | 5 | -0.9953 | -0.9953 | -0.9953 | 0.0000 | acceptor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50841992 | - | 5 | 0.9927 | 0.9927 | 0.9927 | 0.0000 | donor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50836074 | - | 6 | -0.9701 | -0.9701 | -0.9701 | 0.0000 | acceptor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50836312 | - | 6 | 0.9283 | 0.9283 | 0.9283 | 0.0000 | donor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50828131 | - | 7 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50828295 | - | 7 | 0.9735 | 0.9735 | 0.9735 | 0.0000 | donor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50820552 | - | 8 | -0.9953 | -0.9952 | -0.9953 | 0.0000 | acceptor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50820649 | - | 8 | 0.9932 | 0.9932 | 0.9932 | 0.0000 | donor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50816006 | - | 9 | -0.7409 | -0.7409 | -0.7409 | 0.0000 | acceptor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50816279 | - | 9 | 0.8156 | 0.8156 | 0.8156 | 0.0000 | donor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50813857 | - | 10 | -0.7638 | -0.7638 | -0.7638 | 0.0000 | acceptor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50814038 | - | 10 | 0.6147 | 0.6147 | 0.6147 | 0.0000 | donor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50811040 | - | 11 | -0.8962 | -0.8962 | -0.8962 | 0.0000 | acceptor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50811176 | - | 11 | 0.7899 | 0.7899 | 0.7899 | 0.0000 | donor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50809894 | - | 12 | -0.9802 | -0.9802 | -0.9802 | 0.0000 | acceptor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50810042 | - | 12 | 0.9794 | 0.9794 | 0.9794 | 0.0000 | donor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50806880 | - | 13 | 0.8567 | 0.8567 | 0.8567 | 0.0000 | donor | a0002c0004t0006g0269 | HG00639.hp1 | HG00639.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:50886333
|
c.-846C>T | Urate levels0.057 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(35): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(43): Show |
Genome-wide association analyses identify 18 new l others(47): Show |
49,825 European ancestry males, 60,522 European an others(57): Show |
A1CF, ASAH2 | A1CF - MIX23P2 | rs10821905-A | - | MODIFIER | chr10 | G | A |
|
chr10:50886333
|
c.-846C>T |
Estimated glomerular filtration rate0.00 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(35): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(43): Show |
A catalog of genetic loci associated with kidney f others(47): Show |
567,460 European ancestry individuals, 165,726 Eas others(211): Show |
A1CF | A1CF - MIX23P2 | rs10821905-A | - | MODIFIER | chr10 | G | A |
|
chr10:50885664
|
c.-177G>A |
Estimated glomerular filtration rate0.00 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
A catalog of genetic loci associated with kidney f others(47): Show |
567,460 European ancestry individuals/216,518 Euro others(25): Show |
A1CF | A1CF | rs10994860-T | - | MODIFIER | chr10 | C | T |
|
chr10:50888694
|
c.-3207G>A | Estimated glomerular filtration rate in non-diabeticsothers(18): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(37): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(45): Show |
Mapping eGFR loci to the renal transcriptome and p others(41): Show |
152,624 European ancestry individuals, 36,369 Afri others(25): Show |
A1CF | A1CF - MIX23P2 | rs10821907-T | - | MODIFIER | chr10 | C | T |
|
chr10:50885488
|
c.-94+93C>T |
Estimated glomerular filtration rate0.00 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Mapping eGFR loci to the renal transcriptome and p others(41): Show |
70,762 European ancestry diabetic individuals, 152 others(346): Show |
A1CF | A1CF | rs10994856-A | - | MODIFIER | chr10 | G | A |
|
chr10:50888694
|
c.-3207G>A |
Colorectal cancer or advanced adenoma1.0 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(37): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(45): Show |
Discovery of common and rare genetic risk variants others(23): Show |
55,105 European ancestry cases, 3,026 East Asian a others(85): Show |
A1CF, PRKG1 | A1CF - MIX23P2 | rs10821907-C | - | MODIFIER | chr10 | C | T |
|
chr10:50808856
|
c.1609+1038A>G | Urate levels in lean individuals0.08 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0007a0001c0001t0009others(40): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0021others(239): Show | HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 others(282): Show |
Modulation of genetic associations with serum urat others(38): Show |
up to 5,529 European ancestry male individuals, up others(47): Show |
ASAH2B, A1CF | ASAH2B, A1CF | rs4256922-C | - | MODIFIER | chr10 | T | C |
|
chr10:50890011
|
c.-4524G>A | Narcolepsy with cataplexy1.8 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0009a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0009others(12): Show | a0001c0001t0001g0134a0001c0001t0002g0126a0001c0001t0003g0033a0001c0001t0003g0061a0001c0001t0003g0128others(52): Show | HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01123.hp2 others(63): Show |
A polymorphism in CCR1/CCR3 is associated with nar others(8): Show |
409 Japanese ancestry cases, 1,562 Japanese ancest others(71): Show |
A1CF | A1CF - MIX23P2 | rs4290173-C | - | MODIFIER | chr10 | C | T |
|
chr10:50885664
|
c.-177G>A | Glomerular filtration rate in non diabetics (creatinine)others(22): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Genetic associations at 53 loci highlight cell typ others(56): Show |
118,448 European ancestry individuals/36,433 Europ others(24): Show |
A1CF | A1CF | rs10994860-T | - | MODIFIER | chr10 | C | T |
|
chr10:50888694
|
c.-3207G>A | Red blood cell count | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(37): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(45): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 445,000 European ancestry individual others(2): Show |
A1CF - MIX23P2 | rs10821907-? | - | MODIFIER | chr10 | C | T | |
|
chr10:50885488
|
c.-94+93C>T | Urate levels0.052 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Genomic dissection of 43 serum urate-associated lo others(73): Show |
110,238 European ancestry individuals, 21,471 East others(19): Show |
A1CF | A1CF | rs10994856-G | - | MODIFIER | chr10 | G | A |
|
chr10:50885664
|
c.-177G>A | Urate levels0.064207 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
288,649 European ancestry individuals/ | A1CF | A1CF | rs10994860-T | - | MODIFIER | chr10 | C | T |
|
chr10:50885488
|
c.-94+93C>T | Serum uric acid levels0.03785714 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Genome-wide meta-analysis identifies multiple nove others(70): Show |
121,745 Japanese ancestry individuals, at least 88 others(35): Show |
A1CF | A1CF | rs10994856-A | - | MODIFIER | chr10 | G | A |
|
chr10:50885664
|
c.-177G>A | Urate levels0.0733 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
174,111 European, East Asian, African American, So others(125): Show |
NR | A1CF | rs10994860-T | - | MODIFIER | chr10 | C | T |
|
chr10:50885664
|
c.-177G>A | Urate levels0.0523 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
174,111 European, East Asian, African American, So others(125): Show |
NR | A1CF | rs10994860-T | - | MODIFIER | chr10 | C | T |
|
chr10:50885664
|
c.-177G>A | Urate levels0.061 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Target genes, variants, tissues and transcriptiona others(48): Show |
288,649 European ancestry individuals, 125,725 Eas others(132): Show |
A1CF | A1CF | rs10994860-T | - | MODIFIER | chr10 | C | T |
|
chr10:50885488
|
c.-94+93C>T |
Estimated glomerular filtration rate6.45 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Sex-specific and pleiotropic effects underlying ki others(49): Show |
206,856 European ancestry individuals, 143,658 Eas others(29): Show |
A1CF, ASAH2B | A1CF | rs10994856-G | - | MODIFIER | chr10 | G | A |
|
chr10:50885664
|
c.-177G>A | Gout1.0941743 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
A genome-wide association analysis reveals new pat others(25): Show |
100,671 European ancestry cases, 2,106,212 Europea others(20): Show |
A1CF | rs10994860-T | - | MODIFIER | chr10 | C | T | |
|
chr10:50885664
|
c.-177G>A | Gout1.1104885 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
A genome-wide association analysis reveals new pat others(25): Show |
77,627 European ancestry cases, 933,894 European a others(17): Show |
A1CF | rs10994860-T | - | MODIFIER | chr10 | C | T | |
|
chr10:50885664
|
c.-177G>A | Serum urate levels0.0623 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
A genome-wide association analysis reveals new pat others(25): Show |
630,117 European ancestry individuals/ | A1CF | rs10994860-T | - | MODIFIER | chr10 | C | T | |
|
chr10:50885488
|
c.-94+93C>T |
Glomerular filtration rate (creatinine)0 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
1000 Genomes-based meta-analysis identifies 10 nov others(28): Show |
110,517 European ancestry individuals/ | A1CF | A1CF | rs10994856-A | - | MODIFIER | chr10 | G | A |
|
chr10:50879173
|
c.-94+6408A>C | Cognitive function0.58 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0007others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(234): Show | HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 others(276): Show |
Genome-wide association study of population-standa others(75): Show |
2,211 Sub-Saharan African ancestry individuals/ | A1CF | rs6479768-G | - | MODIFIER | chr10 | T | G | |
|
chr10:50885488
|
c.-94+93C>T | Estimated glomerular filtration rate (creatinine)others(15): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Epigenomic and transcriptomic analyses define core others(64): Show |
1,205,871 European ancestry individuals, 168,300 E others(384): Show |
A1CF | rs10994856-A | - | MODIFIER | chr10 | G | A | |
|
chr10:50886333
|
c.-846C>T | Creatinine levels0.031592 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(35): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(43): Show |
Characterising metabolomic signatures of lipid-mod others(61): Show |
110,051 European ancestry individuals/ | A1CF - MIX23P2 | rs10821905-G | - | MODIFIER | chr10 | G | A | |
|
chr10:50885488
|
c.-94+93C>T | Serum urate level in bendroflumethiazide treated hypertensionothers(27): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Genetic Determinants of Thiazide-Induced Hyperuric others(103): Show |
95,493 British ancestry individuals/ | A1CF | rs10994856-? | - | MODIFIER | chr10 | G | A | |
|
chr10:50886333
|
c.-846C>T | Estimated glomerular filtration rate (cystatin c)others(15): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(35): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(43): Show |
Discovery and prioritization of variants and genes others(49): Show |
460,826 European or unknown ancestry individuals/ | A1CF - MIX23P2 | rs10821905-G | - | MODIFIER | chr10 | G | A | |
|
chr10:50886333
|
c.-846C>T | Estimated glomerular filtration rate (creatinine)others(21): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(35): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(43): Show |
Discovery and prioritization of variants and genes others(49): Show |
1,004,040 European ancestry individuals, 165,726 E others(189): Show |
A1CF - MIX23P2 | rs10821905-G | - | MODIFIER | chr10 | G | A | |
|
chr10:50885664
|
c.-177G>A | Estimated glomerular filtration rate (creatinine)others(15): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Discovery and prioritization of variants and genes others(49): Show |
1,004,040 European ancestry individuals/417,288 Eu others(27): Show |
A1CF | rs10994860-C | - | MODIFIER | chr10 | C | T | |
|
chr10:50852341
|
c.99+7501C>T | Serum urate levels0.0498 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0018a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260others(39): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 others(48): Show |
Large-scale cross-ancestry genome-wide meta-analys others(18): Show |
219,768 East Asian ancestry individuals/ | A1CF | rs10994720-A | - | MODIFIER | chr10 | G | A | |
|
chr10:50885488
|
c.-94+93C>T | Serum urate levels0.0608 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Large-scale cross-ancestry genome-wide meta-analys others(18): Show |
219,768 East Asian ancestry individuals, 677,373 E others(50): Show |
A1CF | rs10994856-A | - | MODIFIER | chr10 | G | A | |
|
chr10:50885664
|
c.-177G>A | Serum urate levels0.0611 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Large-scale cross-ancestry genome-wide meta-analys others(18): Show |
677,373 European ancestry individuals/ | A1CF | rs10994860-T | - | MODIFIER | chr10 | C | T | |
|
chr10:50888694
|
c.-3207G>A | Estimated glomerular filtration rate (cystatin c)others(18): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(37): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(45): Show |
Variants in tubule epithelial regulatory elements others(60): Show |
406,504 European ancestry individuals/ | A1CF - MIX23P2 | rs10821907-T | - | MODIFIER | chr10 | C | T | |
|
chr10:50888694
|
c.-3207G>A | Estimated glomerular filtration rate (creatinine)others(17): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(37): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(45): Show |
Variants in tubule epithelial regulatory elements others(60): Show |
406,504 European ancestry individuals/ | A1CF - MIX23P2 | rs10821907-T | - | MODIFIER | chr10 | C | T | |
|
chr10:50888694
|
c.-3207G>A | Estimated glomerular filtration rate (creatinine, cystatin c)others(28): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(37): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(45): Show |
Variants in tubule epithelial regulatory elements others(60): Show |
406,504 European ancestry individuals/ | A1CF - MIX23P2 | rs10821907-T | - | MODIFIER | chr10 | C | T | |
|
chr10:50886333
|
c.-846C>T | Gestational age (fetal effect)0.59030485 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(35): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(43): Show |
Ultra-low-coverage genome-wide association study-i others(94): Show |
1,744 Chinese ancestry embryos/ | A1CF - MIX23P2 | rs10821905-? | - | MODIFIER | chr10 | G | A | |
|
chr10:50886333
|
c.-846C>T | Colorectal cancer0.0634 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(35): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(43): Show |
Deciphering colorectal cancer genetics through mul others(93): Show |
21,731 European ancestry cases, 47,444 European an others(88): Show |
A1CF - MIX23P2 | rs10821905-A | - | MODIFIER | chr10 | G | A | |
|
chr10:50888694
|
c.-3207G>A | Cystatin C levels in bottom 99% of individuals by creatinine levelsothers(37): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(37): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(45): Show |
Genetic analysis of elevated levels of creatinine others(85): Show |
417,815 European ancestry individuals/ | A1CF - MIX23P2 | rs10821907-? | - | MODIFIER | chr10 | C | T | |
|
chr10:50888694
|
c.-3207G>A |
Estimated glomerular filtration rate based on creatinine and cystatin C in bottom 99% of individuals others(88): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(37): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(45): Show |
Genetic analysis of elevated levels of creatinine others(85): Show |
417,815 European ancestry individuals/ | A1CF - MIX23P2 | rs10821907-? | - | MODIFIER | chr10 | C | T | |
|
chr10:50886333
|
c.-846C>T |
Gout and other crystal arthrop (PheCode 274)< others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(35): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(43): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
44,197 European ancestry cases, 393,782 European a others(17): Show |
A1CF - MIX23P2 | rs10821905-G | - | MODIFIER | chr10 | G | A | |
|
chr10:50885664
|
c.-177G>A |
Gout and other crystal arthrop (PheCode 274)< others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
14,867 African American or Afro-Caribbean cases, 1 others(272): Show |
A1CF | rs10994860-C | - | MODIFIER | chr10 | C | T | |
|
chr10:50885664
|
c.-177G>A | Gout (PheCode 274.1)0.09033 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
14,437 African American or Afro-Caribbean cases, 1 others(272): Show |
A1CF | rs10994860-C | - | MODIFIER | chr10 | C | T | |
|
chr10:50886333
|
c.-846C>T | Gout (PheCode 274.1)0.1006 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(35): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(43): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
42,034 European ancestry cases, 397,989 European a others(17): Show |
A1CF - MIX23P2 | rs10821905-G | - | MODIFIER | chr10 | G | A | |
|
chr10:50885488
|
c.-94+93C>T | Takes medication for gout?0.1041 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
20,817 European ancestry cases, 294,851 European a others(17): Show |
A1CF | rs10994856-G | - | MODIFIER | chr10 | G | A | |
|
chr10:50885664
|
c.-177G>A | Gout (PheCode 274.1)0.1021 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
31,493 European ancestry cases, 284,175 European a others(17): Show |
A1CF | rs10994860-C | - | MODIFIER | chr10 | C | T | |
|
chr10:50883318
|
c.-94+2263T>C | Glucose levels0.0136 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0007others(35): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(217): Show | HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 others(256): Show |
A cross-population atlas of genetic associations f others(24): Show |
314,916 European ancestry individuals, 133,336 Eas others(29): Show |
A1CF | rs7075575-G | - | MODIFIER | chr10 | A | G | |
|
chr10:50885664
|
c.-177G>A | estimated glomerular filtration rate (eGFR, mean, inv-norm transformed)others(38): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
110,856 African American or Afro-Caribbean individ others(130): Show |
A1CF | rs10994860-C | - | MODIFIER | chr10 | C | T | |
|
chr10:50886333
|
c.-846C>T | creatinine (maximum, inv-norm transformed)others(9): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(5): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(35): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(43): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
116,285 African American or Afro-Caribbean individ others(130): Show |
A1CF - MIX23P2 | rs10821905-G | - | MODIFIER | chr10 | G | A | |
|
chr10:50885664
|
c.-177G>A | creatinine (minimum, inv-norm transformed)others(9): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
117,108 African American or Afro-Caribbean individ others(130): Show |
A1CF | rs10994860-C | - | MODIFIER | chr10 | C | T | |
|
chr10:50885664
|
c.-177G>A |
creatinine (mean, inv-norm transformed)0 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
116,707 African American or Afro-Caribbean individ others(130): Show |
A1CF | rs10994860-C | - | MODIFIER | chr10 | C | T | |
|
chr10:50888694
|
c.-3207G>A | estimated glomerular filtration rate (eGFR, maximum, inv-norm transformed)others(41): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(37): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(45): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
110,850 African American or Afro-Caribbean individ others(130): Show |
A1CF - MIX23P2 | rs10821907-C | - | MODIFIER | chr10 | C | T | |
|
chr10:50885664
|
c.-177G>A | Serum uric acid levels0.0437 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
A cross-population atlas of genetic associations f others(24): Show |
343,836 European ancestry individuals, 129,405 Eas others(29): Show |
A1CF | rs10994860-T | - | MODIFIER | chr10 | C | T | |
|
chr10:50888694
|
c.-3207G>A | Serum creatinine levels0.0281 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(37): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(45): Show |
A cross-population atlas of genetic associations f others(24): Show |
344,104 European ancestry individuals, 150,266 Eas others(29): Show |
A1CF - MIX23P2 | rs10821907-T | - | MODIFIER | chr10 | C | T | |
|
chr10:50885664
|
c.-177G>A | creatinine (minimum, inv-norm transformed)others(9): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
421,910 European ancestry individuals/ | A1CF | rs10994860-C | - | MODIFIER | chr10 | C | T | |
|
chr10:50885664
|
c.-177G>A | estimated glomerular filtration rate (eGFR, mean, inv-norm transformed)others(38): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
398,886 European ancestry individuals/ | A1CF | rs10994860-C | - | MODIFIER | chr10 | C | T | |
|
chr10:50888694
|
c.-3207G>A | estimated glomerular filtration rate (eGFR, maximum, inv-norm transformed)others(41): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(37): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(45): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
398,886 European ancestry individuals/ | A1CF - MIX23P2 | rs10821907-C | - | MODIFIER | chr10 | C | T | |
|
chr10:50885664
|
c.-177G>A | estimated glomerular filtration rate (eGFR, minimum, inv-norm transformed)others(41): Show | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
398,886 European ancestry individuals/ | A1CF | rs10994860-C | - | MODIFIER | chr10 | C | T | |
|
chr10:50885664
|
c.-177G>A |
creatinine (mean, inv-norm transformed)0 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
421,411 European ancestry individuals/ | A1CF | rs10994860-C | - | MODIFIER | chr10 | C | T | |
|
chr10:50885488
|
c.-94+93C>T | Takes medication for gout?0.1021 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
4,708 African American or Afro-Caribbean cases, 50 others(268): Show |
A1CF | rs10994856-G | - | MODIFIER | chr10 | G | A | |
|
chr10:50885664
|
c.-177G>A | Gout (PheCode 274.1)0.1 | a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0010a0001c0001t0014others(4): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259a0001c0001t0003g0260a0001c0001t0003g0261others(29): Show | HG00438.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
6,538 African American or Afro-Caribbean cases, 48 others(268): Show |
A1CF | rs10994860-C | - | MODIFIER | chr10 | C | T |
