| geneid | 10349 |
|---|---|
| ensemblid | ENSG00000154263.18 |
| hgncid | 30 |
| symbol | ABCA10 |
| name | ATP binding cassette subfamily A member 10 |
| refseq_nuc | NM_001377321.1 |
| refseq_prot | NP_001364250.1 |
| ensembl_nuc | ENST00000690296.1 |
| ensembl_prot | ENSP00000509702.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 69148007 |
| end | 69228824 |
| strand | - |
| ver | v1.2 |
| region | chr17:69148007-69228824 |
| region5000 | chr17:69143007-69233824 |
| regionname0 | ABCA10_chr17_69148007_69228824 |
| regionname5000 | ABCA10_chr17_69143007_69233824 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69154324
|
C | CACCTGGA others(1): Show |
0.1035 | frameshift_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(33): Show |
a0005a0006a0007 | a0005c0005a0006c0007a0006c0016others(1): Show | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(4): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(32): Show | 36 | 348 | 8 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 31/39 | c.3695-6_3696dupTTCCAGGT | p.Glu1233fs | 4252/6008 | 3696/4632 | 1232/1543 | ||
|
chr17:69182175
|
A | G | 0.6897 | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(237): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(33): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(232): Show | 240 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/39 | c.2747T>C | p.Met916Thr | 3303/6008 | 2747/4632 | 916/1543 | ||
|
chr17:69193976
|
AAT | A | 0.1063 | frameshift_variant | HIGH | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(34): Show |
a0005a0006a0007others(1): Show | a0005c0005a0006c0007a0006c0016others(2): Show | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(5): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(33): Show | 37 | 348 | -2 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 13/39 | c.1357_1358delAT | p.Ile453fs | 1914/6008 | 1357/4632 | 453/1543 | ||
|
chr17:69215890
|
A | T | 0.0517 | stop_gained | HIGH | HG01099.hp2 HG02055.hp1 HG02486.hp2 others(15): Show |
a0005 | a0005c0005a0005c0013a0005c0014 | a0005c0005t0004a0005c0005t0015a0005c0013t0001others(1): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(15): Show | 18 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 8/39 | c.783T>A | p.Tyr261* | 1339/6008 | 783/4632 | 261/1543 | ||
|
chr17:69216282
|
G | A | 0.5000 | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(171): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(14): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(19): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(169): Show | 174 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 7/39 | c.607C>T | p.Pro203Ser | 1163/6008 | 607/4632 | 203/1543 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69153343
|
C | T | 0.0230 | synonymous_variant | LOW | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(5): Show |
a0005a0008 | a0005c0013a0008c0009 | a0005c0013t0001a0008c0009t0009 | a0005c0013t0001g0039a0005c0013t0001g0049a0008c0009t0009g0004others(4): Show | 8 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 34/39 | c.4098G>A | p.Pro1366Pro | 4654/6008 | 4098/4632 | 1366/1543 | ||
|
chr17:69219571
|
C | T | 0.5431 | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(186): Show |
a0002a0003a0005others(12): Show | a0002c0002a0002c0015a0003c0003others(19): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(25): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(183): Show | 189 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 6/39 | c.504G>A | p.Val168Val | 1060/6008 | 504/4632 | 168/1543 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA10 | 0/0 | a0005 | 260 | 18 | 17 | 1 | 0 | 0 | 0 | subcellular location copy fasta | chr17 | 69143007 | 69233824 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA10 | 0/0 | c0013 | 4632 | 2 | 2 | 0 | 0 | 0 | 0 | copy fasta | chr17 | 69143007 | 69233824 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA10 | 0/0 | a0005c0013 | 2 | 2 | 0 | 0 | 0 | 0 | 4632 | copy fasta | chr17 | 69143007 | 69233824 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 69228581 | - | 1 | -0.7619 | -0.7615 | -0.7612 | 0.0007 | acceptor | a0005c0013 | HG02559.hp2 | HG02965.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69227145 | - | 2 | -0.9612 | -0.9573 | -0.9535 | 0.0077 | acceptor | a0005c0013 | HG02559.hp2 | HG02965.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69227285 | - | 2 | 0.9862 | 0.9846 | 0.9830 | 0.0032 | donor | a0005c0013 | HG02559.hp2 | HG02965.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69225325 | - | 3 | -0.9265 | -0.9236 | -0.9208 | 0.0057 | acceptor | a0005c0013 | HG02559.hp2 | HG02965.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69225529 | - | 3 | 0.5012 | 0.4961 | 0.4909 | 0.0103 | donor | a0005c0013 | HG02965.hp2 | HG02559.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69222533 | - | 4 | -0.9952 | -0.9952 | -0.9952 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69222697 | - | 4 | 0.9890 | 0.9890 | 0.9890 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69221792 | - | 5 | -0.2053 | -0.2053 | -0.2053 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69221895 | - | 5 | 0.2159 | 0.2159 | 0.2159 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69219545 | - | 6 | -0.9165 | -0.9165 | -0.9165 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69219771 | - | 6 | 0.6757 | 0.6757 | 0.6757 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69216217 | - | 7 | -0.2680 | -0.2680 | -0.2680 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69216358 | - | 7 | 0.3551 | 0.3551 | 0.3551 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69215815 | - | 8 | -0.8925 | -0.8925 | -0.8925 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69216000 | - | 8 | 0.8880 | 0.8880 | 0.8880 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69214704 | - | 9 | -0.7451 | -0.7451 | -0.7451 | 0.0000 | acceptor | a0005c0013 | HG02965.hp2 | HG02559.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69214851 | - | 9 | 0.6171 | 0.6171 | 0.6171 | 0.0000 | donor | a0005c0013 | HG02559.hp2 | HG02965.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69201500 | - | 10 | -0.8021 | -0.8021 | -0.8021 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69201668 | - | 10 | 0.5875 | 0.5875 | 0.5875 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69197064 | - | 11 | -0.9748 | -0.9748 | -0.9748 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69197122 | - | 11 | 0.9916 | 0.9916 | 0.9916 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69194385 | - | 12 | -0.9884 | -0.9884 | -0.9884 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69194495 | - | 12 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193814 | - | 13 | -0.8069 | -0.8069 | -0.8069 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193989 | - | 13 | 0.8782 | 0.8782 | 0.8782 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193493 | - | 14 | -0.9493 | -0.9493 | -0.9493 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193612 | - | 14 | 0.9860 | 0.9860 | 0.9860 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193110 | - | 15 | -0.9627 | -0.9627 | -0.9627 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193248 | - | 15 | 0.9910 | 0.9910 | 0.9910 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69192563 | - | 16 | -0.9094 | -0.9094 | -0.9094 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69192653 | - | 16 | 0.9595 | 0.9595 | 0.9595 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69191176 | - | 17 | -0.9497 | -0.9497 | -0.9497 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69191315 | - | 17 | 0.9552 | 0.9552 | 0.9552 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69190358 | - | 18 | -0.9939 | -0.9939 | -0.9939 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69190477 | - | 18 | 0.9875 | 0.9875 | 0.9875 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69187681 | - | 19 | -0.9757 | -0.9757 | -0.9757 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69187879 | - | 19 | 0.9888 | 0.9888 | 0.9888 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69185477 | - | 20 | -0.9223 | -0.9223 | -0.9223 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69185643 | - | 20 | 0.7842 | 0.7842 | 0.7842 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182675 | - | 21 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182808 | - | 21 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182153 | - | 22 | -0.9597 | -0.9597 | -0.9597 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182290 | - | 22 | 0.9917 | 0.9917 | 0.9917 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69175406 | - | 23 | -0.8110 | -0.8110 | -0.8110 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69175513 | - | 23 | 0.8501 | 0.8501 | 0.8501 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69174607 | - | 24 | -0.3943 | -0.3943 | -0.3943 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69174777 | - | 24 | 0.3786 | 0.3786 | 0.3786 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69174281 | - | 25 | -0.5715 | -0.5715 | -0.5715 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 | HG02965.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69174394 | - | 25 | 0.4529 | 0.4529 | 0.4529 | 0.0000 | donor | a0005c0013 | HG02559.hp2 | HG02965.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69164964 | - | 26 | -0.3346 | -0.3320 | -0.3295 | 0.0050 | acceptor | a0005c0013 | HG02559.hp2 | HG02965.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69165083 | - | 26 | 0.2868 | 0.2852 | 0.2837 | 0.0031 | donor | a0005c0013 | HG02965.hp2 | HG02559.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69164074 | - | 27 | -0.4168 | -0.4147 | -0.4126 | 0.0042 | acceptor | a0005c0013 | HG02965.hp2 | HG02559.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69164154 | - | 27 | 0.5313 | 0.5211 | 0.5109 | 0.0203 | donor | a0005c0013 | HG02965.hp2 | HG02559.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69156832 | - | 28 | -0.7195 | -0.7195 | -0.7195 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69156923 | - | 28 | 0.8820 | 0.8820 | 0.8820 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69155805 | - | 29 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69155925 | - | 29 | 0.9991 | 0.9991 | 0.9991 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69155019 | - | 30 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69155136 | - | 30 | 0.9968 | 0.9968 | 0.9968 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69154235 | - | 31 | -0.9270 | -0.9270 | -0.9270 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69154326 | - | 31 | 0.9499 | 0.9499 | 0.9499 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153831 | - | 32 | -0.9894 | -0.9894 | -0.9894 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69154009 | - | 32 | 0.9761 | 0.9761 | 0.9761 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153471 | - | 33 | -0.8206 | -0.8206 | -0.8206 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153546 | - | 33 | 0.9904 | 0.9904 | 0.9904 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153305 | - | 34 | -0.9982 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153399 | - | 34 | 0.9895 | 0.9895 | 0.9895 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69152362 | - | 35 | -0.9652 | -0.9652 | -0.9652 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69152481 | - | 35 | 0.9662 | 0.9662 | 0.9662 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69152043 | - | 36 | -0.7543 | -0.7543 | -0.7543 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69152183 | - | 36 | 0.8351 | 0.8351 | 0.8351 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69149984 | - | 37 | -0.9679 | -0.9679 | -0.9679 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69150063 | - | 37 | 0.9800 | 0.9799 | 0.9800 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69149033 | - | 38 | -0.9653 | -0.9653 | -0.9653 | 0.0000 | acceptor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69149088 | - | 38 | 0.9702 | 0.9702 | 0.9702 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69148925 | - | 39 | 0.6943 | 0.6943 | 0.6943 | 0.0000 | donor | a0005c0013 | HG02559.hp2 HG02965.hp2 |
HG02559.hp2 HG02965.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69206390
|
c.1007-4722A>G | Corneal resistance factor0.0614396 | a0002a0003a0005a0006a0007others(12): Show | a0002c0002a0002c0015a0003c0003a0003c0025a0003c0028others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001a0003c0003t0001a0003c0003t0005others(26): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014a0002c0002t0001g0015a0002c0002t0001g0016others(188): Show | HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(192): Show |
Fine-mapping and cell-specific enrichment at corne others(74): Show |
76,029 white-British ancestry individuals/10,130 n others(37): Show |
ABCA10 | rs1011789-T | - | MODIFIER | chr17 | T | C | |
|
chr17:69228706
|
c.-438C>A | Paclitaxel disposition in epithelial ovarian cancerothers(16): Show | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0034a0001c0035a0002c0002a0002c0015others(31): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0013a0001c0001t0017a0001c0001t0018others(40): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028others(315): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(321): Show |
Genome-wide association study of paclitaxel and ca others(62): Show |
66 European ancestry cases, 14 Asian ancestry case others(2): Show |
ABCA10 | ABCA10 | rs9302891-? | - | MODIFIER | chr17 | G | T |
|
chr17:69206390
|
c.1007-4722A>G | Central corneal thickness (MTAG)1.539296 | a0002a0003a0005a0006a0007others(12): Show | a0002c0002a0002c0015a0003c0003a0003c0025a0003c0028others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001a0003c0003t0001a0003c0003t0005others(26): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014a0002c0002t0001g0015a0002c0002t0001g0016others(188): Show | HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(192): Show |
Association of Novel Loci With Keratoconus Suscept others(122): Show |
17,803 European ancestry individuals/ | ABCA10 | rs1011789-T | - | MODIFIER | chr17 | T | C | |
|
chr17:69206390
|
c.1007-4722A>G | Corneal resistance factor (MTAG)0.032035 | a0002a0003a0005a0006a0007others(12): Show | a0002c0002a0002c0015a0003c0003a0003c0025a0003c0028others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001a0003c0003t0001a0003c0003t0005others(26): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014a0002c0002t0001g0015a0002c0002t0001g0016others(188): Show | HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(192): Show |
Association of Novel Loci With Keratoconus Suscept others(122): Show |
123,734 European ancestry individuals/ | ABCA10 | rs1011789-T | - | MODIFIER | chr17 | T | C | |
|
chr17:69192435
|
c.1871+128T>C | Corneal hysteresis0.119 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0034a0001c0035a0002c0002a0002c0015others(31): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0001t0013a0001c0001t0017others(43): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028others(315): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(321): Show |
Genome-wide association study of corneal biomechan others(105): Show |
106,041 European ancestry individuals/9,029 Europe others(23): Show |
ABCA10 | ABCA10 | rs8070232-A | - | MODIFIER | chr17 | A | G |
|
chr17:69192435
|
c.1871+128T>C | Corneal resistance factor0.142 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0034a0001c0035a0002c0002a0002c0015others(31): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0001t0013a0001c0001t0017others(43): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028others(315): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(321): Show |
Genome-wide association study of corneal biomechan others(105): Show |
106,030 European ancestry individuals/9,029 Europe others(23): Show |
ABCA10 | ABCA10 | rs8070232-A | - | MODIFIER | chr17 | A | G |
|
chr17:69154035
|
c.3787-26A>G | Hemoglobin concentration0.03001 | a0001a0002a0003a0004a0005others(21): Show | a0001c0001a0001c0034a0001c0035a0002c0002a0002c0015others(32): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0001t0013a0001c0001t0017others(46): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028others(331): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(337): Show |
Common and Ethnic-Specific Genetic Determinants of others(145): Show |
52,141 European ancestry females/89,584 European a others(15): Show |
ABCA10 | rs2886232-T | - | MODIFIER | chr17 | T | C | |
|
chr17:69192435
|
c.1871+128T>C | Height0.0081 | a0001a0002a0003a0004a0005others(20): Show | a0001c0001a0001c0034a0001c0035a0002c0002a0002c0015others(31): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008a0001c0001t0013a0001c0001t0017others(43): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026a0001c0001t0002g0027a0001c0001t0002g0028others(315): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(321): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ABCA10 | rs8070232-A | - | MODIFIER | chr17 | A | G |