| 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 | ||
|
chr17:69155824
|
G | C | 0.0259 | missense_variant | MODERATE | HG01069.hp1 HG01071.hp1 HG01106.hp2 others(6): Show |
a0007 | a0007c0008 | a0007c0008t0004a0007c0008t0007 | a0007c0008t0004g0196a0007c0008t0007g0006a0007c0008t0007g0333others(5): Show | 9 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 29/39 | c.3557C>G | p.Thr1186Ser | 4113/6008 | 3557/4632 | 1186/1543 | ||
|
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 |
| 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 | a0007 | 458 | 9 | 6 | 3 | 0 | 0 | 0 | subcellular location 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 | -0.7636 | -0.6830 | -0.6830 | 0.0806 | acceptor | a0007 | HG02922.hp1 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69227145 | - | 2 | -0.9623 | -0.9608 | -0.9608 | 0.0015 | acceptor | a0007 | HG02922.hp1 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69227285 | - | 2 | 0.9855 | 0.9842 | 0.9842 | 0.0013 | donor | a0007 | HG02922.hp1 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69225325 | - | 3 | -0.9074 | -0.8464 | -0.8464 | 0.0610 | acceptor | a0007 | HG02922.hp1 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69225529 | - | 3 | 0.5462 | 0.4828 | 0.4828 | 0.0635 | donor | a0007 | HG02922.hp1 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69222533 | - | 4 | -0.9946 | -0.9941 | -0.9941 | 0.0006 | acceptor | a0007 | HG02922.hp1 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69222697 | - | 4 | 0.9885 | 0.9883 | 0.9883 | 0.0003 | donor | a0007 | HG02922.hp1 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69221792 | - | 5 | -0.2311 | -0.2300 | -0.2300 | 0.0012 | acceptor | a0007 | HG02922.hp1 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69221895 | - | 5 | 0.2900 | 0.2865 | 0.2865 | 0.0035 | donor | a0007 | HG02922.hp1 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69219545 | - | 6 | -0.8816 | -0.8816 | -0.8816 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69219771 | - | 6 | 0.6874 | 0.6874 | 0.6874 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69216217 | - | 7 | -0.2262 | -0.2262 | -0.2262 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69216358 | - | 7 | 0.3777 | 0.3777 | 0.3777 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69215815 | - | 8 | -0.7442 | -0.7442 | -0.7442 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69216000 | - | 8 | 0.7718 | 0.7718 | 0.7718 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69214704 | - | 9 | -0.6627 | -0.6626 | -0.6611 | 0.0016 | acceptor | a0007 | NA19043.hp1 | HG02922.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69214851 | - | 9 | 0.5299 | 0.5297 | 0.5297 | 0.0002 | donor | a0007 | HG02922.hp1 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(2): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69201500 | - | 10 | -0.7824 | -0.7824 | -0.7824 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69201668 | - | 10 | 0.4972 | 0.4972 | 0.4972 | 0.0000 | donor | a0007 | HG03471.hp1 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69197064 | - | 11 | -0.9788 | -0.9773 | -0.9771 | 0.0017 | acceptor | a0007 | HG02922.hp1 | NA20129.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69197122 | - | 11 | 0.9941 | 0.9941 | 0.9940 | 0.0001 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG03471.hp1 others(2): Show |
HG02922.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69194385 | - | 12 | -0.9877 | -0.9859 | -0.9859 | 0.0019 | acceptor | a0007 | HG02922.hp1 | NA20129.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69194495 | - | 12 | 0.9967 | 0.9967 | 0.9966 | 0.0002 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG03471.hp1 others(1): Show |
HG02922.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193814 | - | 13 | -0.9423 | -0.9422 | -0.9420 | 0.0003 | acceptor | a0007 | NA20129.hp2 | HG02717.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193989 | - | 13 | 0.9239 | 0.9237 | 0.9214 | 0.0025 | donor | a0007 | NA20129.hp2 | HG02922.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193493 | - | 14 | -0.9395 | -0.9394 | -0.9389 | 0.0006 | acceptor | a0007 | NA20129.hp2 | HG02922.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193612 | - | 14 | 0.9844 | 0.9843 | 0.9841 | 0.0003 | donor | a0007 | NA20129.hp2 | HG02922.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193110 | - | 15 | -0.9634 | -0.9634 | -0.9634 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(2): Show |
HG02922.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193248 | - | 15 | 0.9910 | 0.9910 | 0.9910 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(2): Show |
HG02922.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69192563 | - | 16 | -0.9052 | -0.9050 | -0.9050 | 0.0002 | acceptor | a0007 | HG02922.hp1 | NA20129.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69192653 | - | 16 | 0.9610 | 0.9608 | 0.9608 | 0.0001 | donor | a0007 | HG02922.hp1 | NA20129.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69191176 | - | 17 | -0.9487 | -0.9487 | -0.9487 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69191315 | - | 17 | 0.9559 | 0.9558 | 0.9559 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69190358 | - | 18 | -0.9939 | -0.9939 | -0.9939 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69190477 | - | 18 | 0.9871 | 0.9871 | 0.9871 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69187681 | - | 19 | -0.9754 | -0.9754 | -0.9751 | 0.0003 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
NA19043.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69187879 | - | 19 | 0.9878 | 0.9878 | 0.9878 | 0.0001 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
NA19043.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69185477 | - | 20 | -0.9289 | -0.9170 | -0.9170 | 0.0119 | acceptor | a0007 | NA19043.hp1 | HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03471.hp1 NA20129.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69185643 | - | 20 | 0.7871 | 0.7855 | 0.7390 | 0.0481 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 |
NA19043.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69182675 | - | 21 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182808 | - | 21 | 0.9959 | 0.9959 | 0.9957 | 0.0002 | donor | a0007 | HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03471.hp1 NA20129.hp2 |
NA19043.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69182153 | - | 22 | -0.9495 | -0.9490 | -0.9487 | 0.0009 | acceptor | a0007 | HG02647.hp1 HG02717.hp2 HG02922.hp1 NA20129.hp2 |
HG03471.hp1 NA19043.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182290 | - | 22 | 0.9851 | 0.9851 | 0.9849 | 0.0002 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(2): Show |
NA19043.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69175406 | - | 23 | -0.7837 | -0.7837 | -0.7804 | 0.0033 | acceptor | a0007 | HG02647.hp1 HG02922.hp1 HG03471.hp1 NA19043.hp1 |
HG02717.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69175513 | - | 23 | 0.7967 | 0.7913 | 0.7898 | 0.0069 | donor | a0007 | HG02717.hp2 | HG01069.hp1 HG01071.hp1 HG01106.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69174607 | - | 24 | -0.4016 | -0.4007 | -0.4001 | 0.0015 | acceptor | a0007 | HG02717.hp2 | NA20129.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69174777 | - | 24 | 0.3853 | 0.3848 | 0.3843 | 0.0010 | donor | a0007 | HG02717.hp2 | HG01069.hp1 HG01071.hp1 HG01106.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69174281 | - | 25 | -0.5738 | -0.5732 | -0.5727 | 0.0011 | acceptor | a0007 | HG02717.hp2 | NA20129.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69174394 | - | 25 | 0.4649 | 0.4639 | 0.4635 | 0.0014 | donor | a0007 | HG02717.hp2 | HG01069.hp1 HG01071.hp1 HG01106.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69164964 | - | 26 | -0.3371 | -0.3371 | -0.3362 | 0.0009 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02717.hp2 HG03471.hp1 others(1): Show |
HG02647.hp1 HG02922.hp1 NA20129.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69165083 | - | 26 | 0.2949 | 0.2949 | 0.2926 | 0.0024 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02717.hp2 HG03471.hp1 others(1): Show |
HG02647.hp1 HG02922.hp1 NA20129.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69164074 | - | 27 | -0.4025 | -0.4025 | -0.3994 | 0.0031 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02717.hp2 HG03471.hp1 others(1): Show |
HG02647.hp1 HG02922.hp1 NA20129.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69164154 | - | 27 | 0.5187 | 0.5187 | 0.5110 | 0.0077 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02717.hp2 HG03471.hp1 others(1): Show |
HG02647.hp1 HG02922.hp1 NA20129.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69156832 | - | 28 | -0.7874 | -0.7874 | -0.7868 | 0.0006 | acceptor | a0007 | HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03471.hp1 NA19043.hp1 others(1): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69156923 | - | 28 | 0.8553 | 0.8553 | 0.8545 | 0.0008 | donor | a0007 | HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03471.hp1 NA19043.hp1 others(1): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69155805 | - | 29 | -0.9983 | -0.9983 | -0.9983 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69155925 | - | 29 | 0.9993 | 0.9992 | 0.9993 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69155019 | - | 30 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69155136 | - | 30 | 0.9967 | 0.9967 | 0.9967 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69154235 | - | 31 | -0.9483 | -0.9483 | -0.9483 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69154326 | - | 31 | 0.9875 | 0.9875 | 0.9875 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153831 | - | 32 | -0.9868 | -0.9868 | -0.9868 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69154009 | - | 32 | 0.9797 | 0.9797 | 0.9797 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153471 | - | 33 | -0.8152 | -0.8152 | -0.8152 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153546 | - | 33 | 0.9888 | 0.9888 | 0.9888 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153305 | - | 34 | -0.9984 | -0.9983 | -0.9984 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69153399 | - | 34 | 0.9915 | 0.9915 | 0.9915 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69152362 | - | 35 | -0.9645 | -0.9645 | -0.9645 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69152481 | - | 35 | 0.9662 | 0.9662 | 0.9662 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69152043 | - | 36 | -0.7560 | -0.7560 | -0.7560 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69152183 | - | 36 | 0.8329 | 0.8329 | 0.8329 | 0.0000 | donor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 others(4): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69149984 | - | 37 | -0.9704 | -0.9704 | -0.9704 | 0.0000 | acceptor | a0007 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02922.hp1 HG03471.hp1 others(2): Show |
HG02647.hp1 HG02717.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69150063 | - | 37 | 0.9799 | 0.9798 | 0.9798 | 0.0001 | donor | a0007 | HG02647.hp1 | HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02717.hp2 HG02922.hp1 others(3): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69149033 | - | 38 | -0.9655 | -0.9646 | -0.9611 | 0.0044 | acceptor | a0007 | HG02717.hp2 | HG02647.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69149088 | - | 38 | 0.9693 | 0.9692 | 0.9688 | 0.0006 | donor | a0007 | HG02717.hp2 | HG02647.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69148925 | - | 39 | 0.6905 | 0.6872 | 0.6840 | 0.0065 | donor | a0007 | HG02717.hp2 | HG02647.hp1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 69154324:splice 69154324:variant goto | c.3695-6_3696dupTTCCAGGTp.Glu1233fs | 777215 | Benign | ABCA10:10349 | SO:0001574 splice_acceptor_variant |
MedGen:C3661900 | - | 3 | 4 | 7 | 35 | a0005a0006a0007 | a0005c0005a0006c0007a0006c0016a0007c0008 | a0005c0005t0004a0005c0005t0015a0006c0007t0004a0006c0007t0010a0006c0016t0004others(2): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213a0005c0005t0004g0214a0005c0005t0004g0215others(30): Show | HG00639.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 others(31): Show |
HIGH | chr17 | C | CACCTGGA others(1): Show |
TogoVar |
| 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 | |
|
chr17:69192404
|
c.1871+159C>G |
Brain amyloid deposition (PET imaging)0. others(4): Show |
a0004a0005a0006a0007a0008others(3): Show | a0004c0004a0004c0006a0005c0005a0006c0007a0006c0016others(5): Show | a0004c0004t0003a0004c0004t0011a0004c0006t0003a0004c0006t0011a0005c0005t0004others(10): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074a0004c0004t0003g0105a0004c0004t0003g0141others(79): Show | HG00609.hp2 HG00639.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp1 others(82): Show |
Association Between Common Variants in RBFOX1, an others(86): Show |
4,120 Europea ancestry individuals, 89 African Ame others(44): Show |
NR | ABCA10 | rs8068468-C | - | MODIFIER | chr17 | G | 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 |