| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:50800699
|
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 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:50811287
|
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 | ||||||
|
chr10:50818518
|
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 | ||||||
|
chr10:50873699
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(120): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0063others(98): Show | 123 | 338 | 0.3639 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-93-9619G>A | ||||||
|
chr10:50874290
|
TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0011a0001c0001t0001g0063a0001c0001t0001g0064others(37): Show | 48 | 338 | 0.1420 | -1 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-93-10211delT | ||||||
|
chr10:50875061
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0011a0001c0001t0001g0063a0001c0001t0001g0064others(33): Show | 43 | 338 | 0.1272 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+10520C>T | ||||||
|
chr10:50875285
|
T | TA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0011a0001c0001t0001g0063a0001c0001t0001g0064others(33): Show | 43 | 338 | 0.1272 | 1 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+10295dupT | ||||||
|
chr10:50876194
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02451.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0006 | a0001c0001t0005a0001c0001t0011a0001c0001t0015others(4): Show | a0001c0001t0005g0043a0001c0001t0011g0092a0001c0001t0011g0093others(8): Show | 11 | 338 | 0.0325 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+9387C>T | ||||||
|
chr10:50876904
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02897.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0006 | a0001c0001t0005a0001c0008t0001a0001c0008t0017others(1): Show | a0001c0001t0005g0043a0001c0008t0001g0039a0001c0008t0017g0042others(3): Show | 6 | 338 | 0.0178 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+8677G>A | ||||||
|
chr10:50877796
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02897.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0006 | a0001c0001t0005a0001c0008t0001a0002c0006t0006 | a0001c0001t0005g0043a0001c0008t0001g0039a0002c0006t0006g0044others(2): Show | 5 | 338 | 0.0148 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+7785A>G | ||||||
|
chr10:50877848
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02451.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004others(1): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0015others(6): Show | a0001c0001t0005g0043a0001c0001t0011g0092a0001c0001t0011g0093others(10): Show | 13 | 338 | 0.0385 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+7733G>A | ||||||
|
chr10:50878350
|
G | T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02451.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004others(1): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0015others(6): Show | a0001c0001t0005g0043a0001c0001t0011g0092a0001c0001t0011g0093others(10): Show | 13 | 338 | 0.0385 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+7231C>A | ||||||
|
chr10:50878695
|
T | A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02451.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004others(1): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0015others(6): Show | a0001c0001t0005g0043a0001c0001t0011g0092a0001c0001t0011g0093others(10): Show | 13 | 338 | 0.0385 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+6886A>T | ||||||
|
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 |
| 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 | 1/1 | a0001 | 586 | 325 | 77 | 49 | 145 | 12 | 40 | 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 | 1/1 | c0001 | 1761 | 259 | 56 | 45 | 110 | 11 | 35 | copy fasta | chr10 | 50794409 | 50890627 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 0/0 | t0005 | 7461 | 32 | 13 | 7 | 2 | 0 | 10 | copy fasta | chr10 | 50794409 | 50890627 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A1CF | 0/0 | g0043 | 1 | 1 | 0 | 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 | 1/1 | a0001c0001 | 259 | 56 | 45 | 110 | 11 | 35 | 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 | a0001c0001t0005 | 31 | 12 | 7 | 2 | 0 | 10 | 9221 | 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 | a0001c0001t0005g0043 | 1 | 1 | 0 | 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 | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50864080 | - | 2 | 0.3904 | 0.3904 | 0.3904 | 0.0000 | donor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50859842 | - | 3 | -0.7494 | -0.7494 | -0.7494 | 0.0000 | acceptor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50859985 | - | 3 | 0.8132 | 0.8132 | 0.8132 | 0.0000 | donor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50843988 | - | 4 | -0.9976 | -0.9976 | -0.9976 | 0.0000 | acceptor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50844122 | - | 4 | 0.9886 | 0.9886 | 0.9886 | 0.0000 | donor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50841862 | - | 5 | -0.9953 | -0.9953 | -0.9953 | 0.0000 | acceptor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50841992 | - | 5 | 0.9927 | 0.9927 | 0.9927 | 0.0000 | donor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50836074 | - | 6 | -0.9701 | -0.9701 | -0.9701 | 0.0000 | acceptor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50836312 | - | 6 | 0.9283 | 0.9283 | 0.9283 | 0.0000 | donor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50828131 | - | 7 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50828295 | - | 7 | 0.9735 | 0.9735 | 0.9735 | 0.0000 | donor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50820552 | - | 8 | -0.9952 | -0.9952 | -0.9952 | 0.0000 | acceptor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50820649 | - | 8 | 0.9932 | 0.9932 | 0.9932 | 0.0000 | donor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50816006 | - | 9 | -0.7013 | -0.7013 | -0.7013 | 0.0000 | acceptor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50816279 | - | 9 | 0.7518 | 0.7518 | 0.7518 | 0.0000 | donor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50813857 | - | 10 | -0.7563 | -0.7563 | -0.7563 | 0.0000 | acceptor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50814038 | - | 10 | 0.6094 | 0.6093 | 0.6094 | 0.0000 | donor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50811040 | - | 11 | -0.9096 | -0.9096 | -0.9096 | 0.0000 | acceptor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50811176 | - | 11 | 0.8063 | 0.8063 | 0.8063 | 0.0000 | donor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50809894 | - | 12 | -0.9809 | -0.9809 | -0.9809 | 0.0000 | acceptor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50810042 | - | 12 | 0.9805 | 0.9805 | 0.9805 | 0.0000 | donor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.hp1 | A1CF | chr10 | 50794409 | 50890627 |
| 50806880 | - | 13 | 0.9105 | 0.9105 | 0.9105 | 0.0000 | donor | a0001c0001t0005g0043 | HG01884.hp1 | HG01884.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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:50852341
|
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 |
