| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69182175
|
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 | ||
|
chr17:69214851
|
T | C | 0.2414 | missense_variant others(1): Show |
MODERATE | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(81): Show |
a0002a0023a0024 | a0002c0002a0002c0015a0023c0026others(1): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(2): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(79): Show | 84 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/39 | c.859A>G | p.Ile287Val | 1415/6008 | 859/4632 | 287/1543 | ||
|
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69215890
|
A | G | 0.4052 | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(138): Show |
a0002a0003a0015others(5): Show | a0002c0002a0002c0015a0003c0003others(7): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(10): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(136): Show | 141 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 8/39 | c.783T>C | p.Tyr261Tyr | 1339/6008 | 783/4632 | 261/1543 | ||
|
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 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69148056
|
G | A | 0.7069 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(243): Show |
a0001a0002a0003others(17): Show | a0001c0001a0002c0002a0002c0015others(26): Show | a0001c0001t0006a0001c0001t0017a0002c0002t0001others(35): Show | a0001c0001t0006g0009a0001c0001t0006g0010a0001c0001t0006g0011others(238): Show | 246 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 39/39 | c.*771C>T | 771 | |||||
|
chr17:69148487
|
C | A | 0.6695 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0015a0003c0003others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(225): Show | 233 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 39/39 | c.*340G>T | 340 | |||||
|
chr17:69148543
|
T | A | 0.6695 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0015a0003c0003others(20): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(28): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(225): Show | 233 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 39/39 | c.*284A>T | 284 | |||||
|
chr17:69148743
|
G | T | 0.4224 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(144): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0015a0003c0003others(11): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(14): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(142): Show | 147 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 39/39 | c.*84C>A | 84 | |||||
|
chr17:69228706
|
G | T | 0.9368 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(323): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0034a0001c0035others(33): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0013others(42): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026others(317): Show | 326 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1/39 | c.-438C>A | 3348 |
| 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 | 0/1 | a0002 | 1543 | 82 | 2 | 19 | 44 | 3 | 13 | 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 | 0/1 | c0002 | 4632 | 80 | 2 | 17 | 44 | 3 | 13 | copy fasta | chr17 | 69143007 | 69233824 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA10 | 0/1 | t0001 | 1377 | 134 | 18 | 27 | 56 | 10 | 22 | 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 | 0/1 | a0002c0002 | 80 | 2 | 17 | 44 | 3 | 13 | 4632 | 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 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA10 | 0/1 | a0002c0002t0001 | 76 | 2 | 17 | 40 | 3 | 13 | 6008 | 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 | -0.7684 | -0.7632 | -0.7487 | 0.0197 | acceptor | a0002c0002t0001 | HG01070.hp2 | NA18975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69227145 | - | 2 | -0.9782 | -0.9639 | -0.9404 | 0.0378 | acceptor | a0002c0002t0001 | HG04228.hp2 NA18994.hp2 NA19064.hp1 |
NA18956.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69227285 | - | 2 | 0.9865 | 0.9856 | 0.9811 | 0.0054 | donor | a0002c0002t0001 | NA18988.hp1 | NA19010.hp2 NA19081.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69225325 | - | 3 | -0.9344 | -0.9207 | -0.8768 | 0.0576 | acceptor | a0002c0002t0001 | NA18956.hp1 | HG03239.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69225529 | - | 3 | 0.5550 | 0.4913 | 0.4671 | 0.0879 | donor | a0002c0002t0001 | NA18955.hp1 NA18975.hp1 NA19054.hp1 NA19083.hp2 |
NA19010.hp2 NA19081.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69222533 | - | 4 | -0.9953 | -0.9950 | -0.9943 | 0.0010 | acceptor | a0002c0002t0001 | HG03239.hp1 | HG01515.hp2 homoSapiens_chm13v2.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69222697 | - | 4 | 0.9884 | 0.9874 | 0.9871 | 0.0013 | donor | a0002c0002t0001 | HG03239.hp2 | HG03669.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69221792 | - | 5 | -0.2237 | -0.2200 | -0.2126 | 0.0111 | acceptor | a0002c0002t0001 | HG03654.hp1 | NA18994.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69221895 | - | 5 | 0.2692 | 0.2573 | 0.2463 | 0.0229 | donor | a0002c0002t0001 | HG03239.hp2 | NA18994.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69219545 | - | 6 | -0.9242 | -0.9227 | -0.9126 | 0.0116 | acceptor | a0002c0002t0001 | HG03239.hp1 | NA18994.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69219771 | - | 6 | 0.6863 | 0.6853 | 0.6411 | 0.0453 | donor | a0002c0002t0001 | HG03239.hp1 | NA18994.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69216217 | - | 7 | -0.3332 | -0.3182 | -0.3124 | 0.0208 | acceptor | a0002c0002t0001 | HG03239.hp1 | NA19070.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69216358 | - | 7 | 0.4252 | 0.3641 | 0.3599 | 0.0653 | donor | a0002c0002t0001 | HG03239.hp1 | NA18994.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69215815 | - | 8 | -0.9265 | -0.9252 | -0.9146 | 0.0119 | acceptor | a0002c0002t0001 | HG03239.hp1 | NA18955.hp1 NA18975.hp1 NA18975.hp2 NA18988.hp1 NA19054.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69216000 | - | 8 | 0.9290 | 0.9251 | 0.9214 | 0.0076 | donor | a0002c0002t0001 | NA19070.hp2 | NA18955.hp1 NA18975.hp1 NA18975.hp2 NA18988.hp1 NA19054.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69214704 | - | 9 | -0.8927 | -0.8813 | -0.8789 | 0.0139 | acceptor | a0002c0002t0001 | NA18955.hp1 NA18975.hp1 NA18975.hp2 NA18988.hp1 NA19054.hp1 |
NA19007.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69214851 | - | 9 | 0.7861 | 0.7820 | 0.7702 | 0.0160 | donor | a0002c0002t0001 | HG03239.hp1 | NA18955.hp1 NA18975.hp1 NA18975.hp2 NA18988.hp1 NA19054.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69201500 | - | 10 | -0.8335 | -0.8027 | -0.8025 | 0.0310 | acceptor | a0002c0002t0001 | HG00323.hp2 HG01106.hp1 HG01167.hp1 HG01361.hp1 HG01433.hp1 others(1): Show |
HG01169.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69201668 | - | 10 | 0.6311 | 0.5868 | 0.5829 | 0.0482 | donor | a0002c0002t0001 | HG00323.hp2 HG01106.hp1 HG01167.hp1 HG01361.hp1 HG01433.hp1 others(1): Show |
NA19007.hp1 NA19070.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69197064 | - | 11 | -0.9663 | -0.9630 | -0.9626 | 0.0037 | acceptor | a0002c0002t0001 | NA18960.hp1 | HG02300.hp1 NA19079.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69197122 | - | 11 | 0.9933 | 0.9931 | 0.9925 | 0.0008 | donor | a0002c0002t0001 | HG03669.hp2 | HG01070.hp2 HG01167.hp1 HG02129.hp2 NA18957.hp2 NA18994.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69194385 | - | 12 | -0.9893 | -0.9886 | -0.9885 | 0.0008 | acceptor | a0002c0002t0001 | HG02300.hp1 NA19079.hp2 |
HG03654.hp1 HG03669.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69194495 | - | 12 | 0.9967 | 0.9967 | 0.9963 | 0.0004 | donor | a0002c0002t0001 | HG03669.hp2 | HG02300.hp1 NA19079.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193814 | - | 13 | -0.8104 | -0.8091 | -0.8070 | 0.0034 | acceptor | a0002c0002t0001 | NA18971.hp1 | HG02300.hp1 NA19079.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193989 | - | 13 | 0.8806 | 0.8803 | 0.8764 | 0.0041 | donor | a0002c0002t0001 | HG04199.hp2 | HG02300.hp1 NA19079.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193493 | - | 14 | -0.9524 | -0.9496 | -0.9464 | 0.0060 | acceptor | a0002c0002t0001 | NA18964.hp2 | NA18971.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193612 | - | 14 | 0.9862 | 0.9861 | 0.9854 | 0.0008 | donor | a0002c0002t0001 | NA18955.hp1 NA18975.hp1 NA18975.hp2 NA18988.hp1 NA19054.hp1 |
NA18964.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193110 | - | 15 | -0.9638 | -0.9627 | -0.9618 | 0.0020 | acceptor | a0002c0002t0001 | NA18964.hp2 | HG01433.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193248 | - | 15 | 0.9915 | 0.9910 | 0.9906 | 0.0009 | donor | a0002c0002t0001 | HG01433.hp1 | NA18964.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69192563 | - | 16 | -0.9152 | -0.9094 | -0.9068 | 0.0084 | acceptor | a0002c0002t0001 | NA18964.hp2 | NA19066.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69192653 | - | 16 | 0.9600 | 0.9595 | 0.9562 | 0.0039 | donor | a0002c0002t0001 | HG04184.hp2 | HG04199.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69191176 | - | 17 | -0.9512 | -0.9492 | -0.9445 | 0.0067 | acceptor | a0002c0002t0001 | HG04184.hp2 | NA18964.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69191315 | - | 17 | 0.9563 | 0.9552 | 0.9477 | 0.0086 | donor | a0002c0002t0001 | NA18955.hp1 NA18975.hp1 NA18975.hp2 NA18988.hp1 NA19054.hp1 |
NA18964.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69190358 | - | 18 | -0.9951 | -0.9937 | -0.9934 | 0.0018 | acceptor | a0002c0002t0001 | NA18964.hp2 | HG03239.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69190477 | - | 18 | 0.9910 | 0.9873 | 0.9872 | 0.0038 | donor | a0002c0002t0001 | NA18964.hp2 | NA19066.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69187681 | - | 19 | -0.9756 | -0.9750 | -0.9743 | 0.0013 | acceptor | a0002c0002t0001 | HG00438.hp1 NA18964.hp2 |
HG03704.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69187879 | - | 19 | 0.9891 | 0.9885 | 0.9881 | 0.0010 | donor | a0002c0002t0001 | NA18960.hp1 | HG03704.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69185477 | - | 20 | -0.9273 | -0.9255 | -0.9226 | 0.0047 | acceptor | a0002c0002t0001 | HG03239.hp1 | HG01070.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69185643 | - | 20 | 0.8044 | 0.8029 | 0.7967 | 0.0077 | donor | a0002c0002t0001 | HG04204.hp2 | HG02083.hp1 HG04228.hp2 NA18957.hp2 NA18969.hp1 NA18982.hp2 others(1): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182675 | - | 21 | -0.9996 | -0.9996 | -0.9996 | 0.0001 | acceptor | a0002c0002t0001 | NA20905.hp2 | HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00733.hp1 others(68): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182808 | - | 21 | 0.9962 | 0.9961 | 0.9961 | 0.0001 | donor | a0002c0002t0001 | HG01070.hp2 | HG03239.hp1 HG04184.hp2 NA18994.hp2 NA20905.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182153 | - | 22 | -0.9622 | -0.9607 | -0.9604 | 0.0018 | acceptor | a0002c0002t0001 | HG02300.hp1 | HG01070.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69182290 | - | 22 | 0.9922 | 0.9919 | 0.9918 | 0.0003 | donor | a0002c0002t0001 | NA20905.hp2 | HG03017.hp1 HG03704.hp1 HG04199.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69175406 | - | 23 | -0.8290 | -0.8188 | -0.8001 | 0.0289 | acceptor | a0002c0002t0001 | HG01099.hp1 | NA19010.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69175513 | - | 23 | 0.8552 | 0.8314 | 0.7835 | 0.0717 | donor | a0002c0002t0001 | HG01070.hp2 | NA19010.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69174607 | - | 24 | -0.4007 | -0.3947 | -0.3550 | 0.0457 | acceptor | a0002c0002t0001 | HG01099.hp1 | NA19010.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69174777 | - | 24 | 0.3815 | 0.3763 | 0.3443 | 0.0372 | donor | a0002c0002t0001 | HG01515.hp2 | NA19010.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69174281 | - | 25 | -0.5772 | -0.5709 | -0.4690 | 0.1082 | acceptor | a0002c0002t0001 | HG01099.hp1 | NA19010.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69174394 | - | 25 | 0.4732 | 0.4527 | 0.3605 | 0.1127 | donor | a0002c0002t0001 | HG01167.hp1 | NA19010.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69164964 | - | 26 | -0.3396 | -0.3314 | -0.2757 | 0.0639 | acceptor | a0002c0002t0001 | HG01361.hp1 HG01433.hp1 |
HG04204.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69165083 | - | 26 | 0.2938 | 0.2856 | 0.2545 | 0.0393 | donor | a0002c0002t0001 | HG01361.hp1 HG01433.hp1 |
HG04204.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69164074 | - | 27 | -0.4386 | -0.4165 | -0.4111 | 0.0276 | acceptor | a0002c0002t0001 | HG04204.hp2 | NA18942.hp2 NA18957.hp2 NA18977.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69164154 | - | 27 | 0.5396 | 0.5232 | 0.4213 | 0.1183 | donor | a0002c0002t0001 | NA18962.hp2 NA18963.hp2 NA19063.hp1 NA19078.hp1 NA19083.hp2 |
HG04204.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69156832 | - | 28 | -0.7216 | -0.7195 | -0.7108 | 0.0108 | acceptor | a0002c0002t0001 | HG00438.hp1 | NA19064.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69156923 | - | 28 | 0.8843 | 0.8820 | 0.8768 | 0.0075 | donor | a0002c0002t0001 | HG00438.hp1 | NA19064.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69155805 | - | 29 | -0.9980 | -0.9980 | -0.9979 | 0.0002 | acceptor | a0002c0002t0001 | HG00323.hp2 HG00438.hp2 HG00609.hp1 HG00733.hp1 HG01070.hp2 others(63): Show |
NA19064.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69155925 | - | 29 | 0.9991 | 0.9991 | 0.9991 | 0.0000 | donor | a0002c0002t0001 | NA19090.hp1 | NA19064.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69155019 | - | 30 | -0.9974 | -0.9974 | -0.9959 | 0.0015 | acceptor | a0002c0002t0001 | HG00438.hp1 | NA19064.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69155136 | - | 30 | 0.9969 | 0.9968 | 0.9944 | 0.0024 | donor | a0002c0002t0001 | NA19090.hp1 | NA19064.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69154235 | - | 31 | -0.9494 | -0.9270 | -0.9234 | 0.0260 | acceptor | a0002c0002t0001 | NA18963.hp2 NA19001.hp1 NA19078.hp1 |
NA19064.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69154326 | - | 31 | 0.9506 | 0.9494 | 0.9304 | 0.0202 | donor | a0002c0002t0001 | NA19064.hp1 | NA19090.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69153831 | - | 32 | -0.9895 | -0.9894 | -0.8655 | 0.1240 | acceptor | a0002c0002t0001 | NA19064.hp1 | NA18963.hp2 NA19001.hp1 NA19078.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69154009 | - | 32 | 0.9761 | 0.9760 | 0.0000 | 0.9760 | donor | a0002c0002t0001 | NA18964.hp2 NA19056.hp1 |
NA18963.hp2 NA19001.hp1 NA19078.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153471 | - | 33 | -0.8081 | -0.8072 | -0.7998 | 0.0082 | acceptor | a0002c0002t0001 | NA18963.hp2 NA19001.hp1 NA19078.hp1 |
NA18955.hp1 NA18975.hp1 NA19054.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153546 | - | 33 | 0.9901 | 0.9900 | 0.9893 | 0.0008 | donor | a0002c0002t0001 | NA18969.hp1 NA18982.hp2 |
NA18963.hp2 NA19001.hp1 NA19078.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153305 | - | 34 | -0.9986 | -0.9984 | -0.9984 | 0.0002 | acceptor | a0002c0002t0001 | NA18963.hp2 NA19001.hp1 NA19078.hp1 |
NA19090.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69153399 | - | 34 | 0.9918 | 0.9910 | 0.9908 | 0.0011 | donor | a0002c0002t0001 | NA18963.hp2 NA19001.hp1 NA19078.hp1 |
NA19090.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69152362 | - | 35 | -0.9649 | -0.9649 | -0.9592 | 0.0058 | acceptor | a0002c0002t0001 | NA19064.hp1 | NA18963.hp2 NA19001.hp1 NA19078.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69152481 | - | 35 | 0.9659 | 0.9658 | 0.9617 | 0.0042 | donor | a0002c0002t0001 | NA18955.hp1 NA18975.hp1 NA19054.hp1 |
NA18963.hp2 NA19001.hp1 NA19078.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69152043 | - | 36 | -0.7479 | -0.7473 | -0.7357 | 0.0122 | acceptor | a0002c0002t0001 | NA18969.hp1 NA18982.hp2 |
NA18963.hp2 NA19001.hp1 NA19078.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69152183 | - | 36 | 0.8340 | 0.8331 | 0.8304 | 0.0036 | donor | a0002c0002t0001 | NA18969.hp1 NA18982.hp2 |
NA18963.hp2 NA19001.hp1 NA19078.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69149984 | - | 37 | -0.9677 | -0.9676 | -0.9674 | 0.0003 | acceptor | a0002c0002t0001 | HG03017.hp1 HG03704.hp1 HG04199.hp2 |
NA18964.hp2 NA19056.hp1 NA19090.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69150063 | - | 37 | 0.9800 | 0.9798 | 0.9798 | 0.0002 | donor | a0002c0002t0001 | HG03017.hp1 HG03704.hp1 HG04199.hp2 |
NA18969.hp1 NA18982.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69149033 | - | 38 | -0.9653 | -0.9652 | -0.9617 | 0.0036 | acceptor | a0002c0002t0001 | HG01515.hp2 | HG01361.hp1 NA18956.hp1 NA18975.hp1 NA19007.hp1 NA19070.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69149088 | - | 38 | 0.9702 | 0.9700 | 0.9688 | 0.0014 | donor | a0002c0002t0001 | HG01515.hp2 | HG03017.hp1 HG03704.hp1 HG04199.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69148925 | - | 39 | 0.6960 | 0.6943 | 0.6889 | 0.0071 | donor | a0002c0002t0001 | HG01515.hp2 | HG01361.hp1 NA18956.hp1 NA18975.hp1 NA19007.hp1 NA19070.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 | |
|
chr17:69222337
|
c.199+195delT |
Sex hormone-binding globulin levels0.027 others(4): Show |
a0001a0002a0003a0005a0006others(11): Show | a0001c0001a0002c0002a0002c0015a0003c0003a0003c0025others(16): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0005a0002c0015t0001a0003c0003t0001others(22): Show | a0001c0001t0002g0178a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014a0002c0002t0001g0015others(176): Show | HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(179): Show |
Genetic analyses implicate complex links between a others(48): Show |
163,363 British ancestry men/ | ABCA10 | rs747129667-? | - | MODIFIER | chr17 | CA | 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 |
|
chr17:69223627
|
c.35-930G>A | CXCL12 protein levels0.05304703 | a0001a0002a0003a0004a0005others(6): Show | a0001c0001a0002c0002a0003c0003a0004c0004a0005c0005others(8): Show | a0001c0001t0006a0002c0002t0001a0003c0003t0001a0004c0004t0003a0005c0005t0004others(9): Show | a0001c0001t0006g0224a0001c0001t0006g0225a0002c0002t0001g0082a0002c0002t0001g0228a0002c0002t0001g0229others(44): Show | HG00280.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG01070.hp1 others(44): Show |
The genomic architecture of circulating cytokine l others(57): Show |
41,557 European ancestry individuals/ | ABCA10 | rs1468512-? | - | MODIFIER | chr17 | C | T | |
|
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 |