| 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 | ||||||
|
chr10:50821541
|
A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(146): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0020a0001c0001t0001g0021others(127): Show | 149 | 338 | 0.4408 | 1 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 7/12 | c.770-893dupA | ||||||
|
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 | ||||||
|
chr10:50832494
|
C | T | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG01109.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(4): Show | a0001c0001t0001g0074a0001c0001t0005g0251a0001c0001t0005g0253others(29): Show | 36 | 338 | 0.1065 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 6/12 | c.604+3580G>A | ||||||
|
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 | ||||||
|
chr10:50843482
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(142): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0020a0001c0001t0001g0021others(124): Show | 145 | 338 | 0.4290 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 4/12 | c.234+506A>G | ||||||
|
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 | ||||||
|
chr10:50848897
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(141): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0020a0001c0001t0001g0021others(123): Show | 144 | 338 | 0.4260 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | c.100-4775T>C | ||||||
|
chr10:50849786
|
C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(201): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(166): Show | 204 | 338 | 0.6036 | 1 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | c.100-5665dupA | ||||||
|
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 | ||||||
|
chr10:50853750
|
AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(185): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0020others(159): Show | 188 | 338 | 0.5562 | -1 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | c.99+6091delA | ||||||
|
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 | ||||||
|
chr10:50854115
|
T | C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0251a0001c0001t0005g0253a0001c0001t0014g0252 | 3 | 338 | 0.0089 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | c.99+5727A>G | ||||||
|
chr10:50856463
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(131): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0020a0001c0001t0001g0021others(114): Show | 134 | 338 | 0.3965 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | c.99+3379G>A | ||||||
|
chr10:50856509
|
G | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(128): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0020a0001c0001t0001g0021others(111): Show | 131 | 338 | 0.3876 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | c.99+3333C>A | ||||||
|
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 | ||||||
|
chr10:50865223
|
C | A | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0251a0001c0001t0005g0253a0001c0001t0014g0252 | 3 | 338 | 0.0089 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-93-1143G>T | ||||||
|
chr10:50866087
|
C | T | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG01109.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(4): Show | a0001c0001t0001g0074a0001c0001t0005g0251a0001c0001t0005g0253others(28): Show | 35 | 338 | 0.1036 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-93-2007G>A | ||||||
|
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 | ||||||
|
chr10:50873248
|
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 | ||||||
|
chr10:50885001
|
T | A | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0005a0001c0001t0014a0001c0002t0004others(1): Show | a0001c0001t0005g0251a0001c0001t0005g0253a0001c0001t0014g0252others(9): Show | 12 | 338 | 0.0355 | 0 | A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | c.-94+580A>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 | 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 | g0251 | 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 | 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 | a0001c0001t0005g0251 | 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 | -0.2374 | -0.2374 | -0.2374 | 0.0000 | acceptor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50864080 | - | 2 | 0.3858 | 0.3858 | 0.3858 | 0.0000 | donor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50859842 | - | 3 | -0.7508 | -0.7508 | -0.7508 | 0.0000 | acceptor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50859985 | - | 3 | 0.8118 | 0.8118 | 0.8118 | 0.0000 | donor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50843988 | - | 4 | -0.9973 | -0.9973 | -0.9973 | 0.0000 | acceptor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50844122 | - | 4 | 0.9886 | 0.9886 | 0.9886 | 0.0000 | donor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50841862 | - | 5 | -0.9954 | -0.9954 | -0.9954 | 0.0000 | acceptor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50841992 | - | 5 | 0.9928 | 0.9928 | 0.9928 | 0.0000 | donor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50836074 | - | 6 | -0.9694 | -0.9694 | -0.9694 | 0.0000 | acceptor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50836312 | - | 6 | 0.9282 | 0.9282 | 0.9282 | 0.0000 | donor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50828131 | - | 7 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50828295 | - | 7 | 0.9735 | 0.9735 | 0.9735 | 0.0000 | donor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50820552 | - | 8 | -0.9950 | -0.9950 | -0.9950 | 0.0000 | acceptor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50820649 | - | 8 | 0.9932 | 0.9932 | 0.9932 | 0.0000 | donor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50816006 | - | 9 | -0.7013 | -0.7013 | -0.7013 | 0.0000 | acceptor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50816279 | - | 9 | 0.7518 | 0.7518 | 0.7518 | 0.0000 | donor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50813857 | - | 10 | -0.7563 | -0.7563 | -0.7563 | 0.0000 | acceptor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50814038 | - | 10 | 0.6094 | 0.6093 | 0.6094 | 0.0000 | donor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50811040 | - | 11 | -0.9096 | -0.9096 | -0.9096 | 0.0000 | acceptor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50811176 | - | 11 | 0.8063 | 0.8063 | 0.8063 | 0.0000 | donor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50809894 | - | 12 | -0.9809 | -0.9809 | -0.9809 | 0.0000 | acceptor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50810042 | - | 12 | 0.9805 | 0.9805 | 0.9805 | 0.0000 | donor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | A1CF | chr10 | 50794409 | 50890627 |
| 50806880 | - | 13 | 0.9105 | 0.9105 | 0.9105 | 0.0000 | donor | a0001c0001t0005g0251 | HG01109.hp2 | HG01109.hp2 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:50879173
|
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 | |
|
chr10:50883318
|
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 |
