| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:69149049
|
TGA | T | 0.1207 | frameshift_variant | HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(38): Show | 42 | 348 | -2 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 38/39 | c.4515_4516delTC | p.Gln1506fs | 5072/6008 | 4515/4632 | 1505/1543 | ||
|
chr17:69153832
|
G | A | 0.1207 | stop_gained others(1): Show |
HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(38): Show | 42 | 348 | 0 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 32/39 | c.3964C>T | p.Arg1322* | 4520/6008 | 3964/4632 | 1322/1543 | ||
|
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 | ||
|
chr17:69194395
|
AACAG | A | 0.1207 | frameshift_variant | HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(38): Show | 42 | 348 | -4 | ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 12/39 | c.1331_1334delCTGT | p.Ser444fs | 1890/6008 | 1331/4632 | 444/1543 |
| 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 | a0004 | 459 | 42 | 4 | 15 | 17 | 1 | 5 | 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 | -0.8116 | -0.7636 | -0.7441 | 0.0674 | acceptor | a0004 | HG01978.hp2 HG02015.hp2 |
HG00733.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69227145 | - | 2 | -0.9782 | -0.9641 | -0.9530 | 0.0251 | acceptor | a0004 | NA18945.hp2 NA19068.hp1 |
NA18985.hp2 NA18993.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69227285 | - | 2 | 0.9865 | 0.9856 | 0.9831 | 0.0034 | donor | a0004 | HG02895.hp1 | NA18985.hp2 NA18993.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69225325 | - | 3 | -0.9273 | -0.9142 | -0.8764 | 0.0509 | acceptor | a0004 | NA19000.hp2 NA19074.hp1 |
NA19060.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69225529 | - | 3 | 0.5560 | 0.5437 | 0.4690 | 0.0870 | donor | a0004 | HG01070.hp1 HG01071.hp2 HG02148.hp2 |
HG03834.hp2 NA18965.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69222533 | - | 4 | -0.9954 | -0.9953 | -0.9948 | 0.0005 | acceptor | a0004 | HG02015.hp2 | HG01243.hp2 HG02040.hp2 HG02071.hp2 HG02886.hp1 HG03579.hp2 others(2): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69222697 | - | 4 | 0.9900 | 0.9897 | 0.9890 | 0.0010 | donor | a0004 | HG02040.hp2 HG02886.hp1 NA19030.hp2 |
HG02004.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69221792 | - | 5 | -0.2271 | -0.2099 | -0.1967 | 0.0305 | acceptor | a0004 | HG02015.hp2 | HG03579.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69221895 | - | 5 | 0.2388 | 0.2275 | 0.2182 | 0.0206 | donor | a0004 | HG02015.hp2 | HG03579.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69219545 | - | 6 | -0.9391 | -0.9390 | -0.9366 | 0.0025 | acceptor | a0004 | HG01928.hp1 | HG02015.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69219771 | - | 6 | 0.7139 | 0.7113 | 0.7077 | 0.0062 | donor | a0004 | HG02015.hp2 | HG01928.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69216217 | - | 7 | -0.2456 | -0.2442 | -0.2429 | 0.0027 | acceptor | a0004 | HG02015.hp2 | HG01928.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69216358 | - | 7 | 0.4102 | 0.3909 | 0.3909 | 0.0194 | donor | a0004 | HG01928.hp1 | HG00609.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 others(33): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69215815 | - | 8 | -0.6955 | -0.6943 | -0.6934 | 0.0020 | acceptor | a0004 | HG02886.hp1 NA19030.hp2 |
HG01928.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69216000 | - | 8 | 0.7595 | 0.7563 | 0.7527 | 0.0068 | donor | a0004 | HG02886.hp1 NA19030.hp2 |
HG01928.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69214704 | - | 9 | -0.6937 | -0.6917 | -0.6876 | 0.0061 | acceptor | a0004 | HG02886.hp1 | HG01928.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69214851 | - | 9 | 0.6042 | 0.5985 | 0.5909 | 0.0133 | donor | a0004 | HG02886.hp1 | HG01928.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69201500 | - | 10 | -0.8513 | -0.8513 | -0.7871 | 0.0642 | acceptor | a0004 | HG00609.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 others(21): Show |
HG02886.hp1 NA19030.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69201668 | - | 10 | 0.5863 | 0.5682 | 0.5634 | 0.0229 | donor | a0004 | HG02071.hp2 | NA18989.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69197064 | - | 11 | -0.9801 | -0.9795 | -0.9790 | 0.0011 | acceptor | a0004 | HG01975.hp2 | NA18989.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69197122 | - | 11 | 0.9949 | 0.9948 | 0.9946 | 0.0002 | donor | a0004 | HG02004.hp2 HG02015.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
HG01978.hp2 NA19002.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69194385 | - | 12 | -0.9896 | -0.9896 | -0.9892 | 0.0003 | acceptor | a0004 | HG02004.hp2 HG02015.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69194495 | - | 12 | 0.9967 | 0.9965 | 0.9965 | 0.0002 | donor | a0004 | HG01975.hp2 | HG01978.hp2 NA18989.hp2 NA19002.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193814 | - | 13 | -0.9276 | -0.8371 | -0.8329 | 0.0947 | acceptor | a0004 | HG02004.hp2 HG02015.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
HG01978.hp2 NA18989.hp2 NA19002.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193989 | - | 13 | 0.9513 | 0.8883 | 0.8838 | 0.0675 | donor | a0004 | HG02004.hp2 HG02015.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
HG01978.hp2 NA18989.hp2 NA19002.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193493 | - | 14 | -0.9525 | -0.9510 | -0.9510 | 0.0016 | acceptor | a0004 | HG01978.hp2 NA18989.hp2 NA19002.hp2 |
HG00609.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 others(6): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193612 | - | 14 | 0.9865 | 0.9862 | 0.9848 | 0.0016 | donor | a0004 | HG01978.hp2 NA18989.hp2 NA19002.hp2 |
HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69193110 | - | 15 | -0.9649 | -0.9639 | -0.9639 | 0.0011 | acceptor | a0004 | HG01975.hp2 | HG01978.hp2 NA18989.hp2 NA19002.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69193248 | - | 15 | 0.9909 | 0.9908 | 0.9906 | 0.0003 | donor | a0004 | HG03579.hp2 | NA18993.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69192563 | - | 16 | -0.9072 | -0.9049 | -0.9046 | 0.0026 | acceptor | a0004 | HG02004.hp2 HG02015.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
HG01978.hp2 NA18989.hp2 NA19002.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69192653 | - | 16 | 0.9603 | 0.9598 | 0.9596 | 0.0006 | donor | a0004 | HG02004.hp2 HG02015.hp2 NA18612.hp2 NA18945.hp2 NA18965.hp1 others(6): Show |
HG01978.hp2 NA18989.hp2 NA19002.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69191176 | - | 17 | -0.9478 | -0.9473 | -0.9469 | 0.0009 | acceptor | a0004 | HG01975.hp2 HG02004.hp2 HG02015.hp2 NA18612.hp2 NA18945.hp2 others(8): Show |
HG00609.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 others(10): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69191315 | - | 17 | 0.9574 | 0.9572 | 0.9567 | 0.0007 | donor | a0004 | HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01243.hp2 HG02040.hp2 others(9): Show |
HG00609.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 others(9): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69190358 | - | 18 | -0.9954 | -0.9945 | -0.9944 | 0.0010 | acceptor | a0004 | HG03579.hp2 | HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01243.hp2 HG02040.hp2 others(9): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69190477 | - | 18 | 0.9903 | 0.9868 | 0.9867 | 0.0037 | donor | a0004 | HG03579.hp2 | HG00609.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 others(9): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69187681 | - | 19 | -0.9759 | -0.9757 | -0.9755 | 0.0004 | acceptor | a0004 | HG01070.hp1 HG01071.hp2 HG02895.hp1 |
HG01928.hp1 HG04199.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69187879 | - | 19 | 0.9893 | 0.9888 | 0.9887 | 0.0006 | donor | a0004 | HG03579.hp2 | NA18945.hp2 NA18965.hp1 NA19068.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69185477 | - | 20 | -0.9298 | -0.9257 | -0.9242 | 0.0056 | acceptor | a0004 | HG02071.hp2 NA18945.hp2 NA18965.hp1 NA19068.hp1 |
HG01070.hp1 HG01071.hp2 HG02895.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69185643 | - | 20 | 0.7890 | 0.7789 | 0.7636 | 0.0254 | donor | a0004 | HG02071.hp2 NA18945.hp2 NA18965.hp1 NA19068.hp1 |
HG01070.hp1 HG01071.hp2 HG02895.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182675 | - | 21 | -0.9996 | -0.9996 | -0.9995 | 0.0001 | acceptor | a0004 | HG02886.hp1 NA19030.hp2 |
HG01192.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69182808 | - | 21 | 0.9970 | 0.9957 | 0.9957 | 0.0013 | donor | a0004 | HG01928.hp1 | HG01975.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69182153 | - | 22 | -0.9576 | -0.9473 | -0.9473 | 0.0103 | acceptor | a0004 | HG02886.hp1 NA19030.hp2 |
HG00609.hp2 HG00733.hp2 HG01243.hp2 HG02015.hp2 HG02040.hp2 others(16): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69182290 | - | 22 | 0.9870 | 0.9855 | 0.9854 | 0.0015 | donor | a0004 | HG02886.hp1 NA19030.hp2 |
NA19000.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69175406 | - | 23 | -0.8063 | -0.8054 | -0.7852 | 0.0211 | acceptor | a0004 | HG01978.hp2 | HG01975.hp2 NA19002.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69175513 | - | 23 | 0.8103 | 0.7772 | 0.7665 | 0.0438 | donor | a0004 | HG01975.hp2 NA19002.hp2 |
HG02895.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69174607 | - | 24 | -0.4053 | -0.4039 | -0.4031 | 0.0022 | acceptor | a0004 | HG01167.hp2 | HG01978.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69174777 | - | 24 | 0.3973 | 0.3970 | 0.3936 | 0.0037 | donor | a0004 | HG01978.hp2 | HG01975.hp2 NA19002.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69174281 | - | 25 | -0.5876 | -0.5829 | -0.5802 | 0.0074 | acceptor | a0004 | HG02895.hp1 | HG01167.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69174394 | - | 25 | 0.4790 | 0.4752 | 0.4689 | 0.0101 | donor | a0004 | HG02040.hp2 | HG01070.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69164964 | - | 26 | -0.3306 | -0.3271 | -0.3130 | 0.0177 | acceptor | a0004 | NA19074.hp1 | HG01433.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69165083 | - | 26 | 0.2760 | 0.2748 | 0.2659 | 0.0101 | donor | a0004 | HG01975.hp2 HG02004.hp2 HG02015.hp2 HG04199.hp1 NA18612.hp2 others(5): Show |
HG03579.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69164074 | - | 27 | -0.3888 | -0.3807 | -0.3777 | 0.0111 | acceptor | a0004 | HG01243.hp2 | HG01070.hp1 HG01071.hp2 NA20752.hp1 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69164154 | - | 27 | 0.4949 | 0.4874 | 0.4574 | 0.0374 | donor | a0004 | NA18989.hp2 NA19002.hp2 |
HG04115.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69156832 | - | 28 | -0.8129 | -0.7835 | -0.7185 | 0.0944 | acceptor | a0004 | HG03834.hp2 | HG01243.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69156923 | - | 28 | 0.8803 | 0.8651 | 0.8583 | 0.0220 | donor | a0004 | HG00733.hp2 | HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01433.hp2 others(2): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69155805 | - | 29 | -0.9980 | -0.9979 | -0.9979 | 0.0001 | acceptor | a0004 | HG01934.hp1 HG02040.hp2 HG03579.hp2 NA18974.hp2 NA19060.hp2 |
HG02015.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69155925 | - | 29 | 0.9991 | 0.9991 | 0.9991 | 0.0001 | donor | a0004 | HG03579.hp2 | HG01070.hp1 HG01071.hp2 HG02071.hp2 HG02148.hp2 HG02895.hp1 others(3): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69155019 | - | 30 | -0.9971 | -0.9971 | -0.9950 | 0.0021 | acceptor | a0004 | HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01433.hp2 others(20): Show |
HG00733.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69155136 | - | 30 | 0.9968 | 0.9966 | 0.9965 | 0.0003 | donor | a0004 | HG01934.hp1 | HG02015.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69154235 | - | 31 | -0.9448 | -0.9376 | -0.9369 | 0.0079 | acceptor | a0004 | HG02040.hp2 HG03579.hp2 NA18974.hp2 NA19060.hp2 |
HG02015.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69154326 | - | 31 | 0.9399 | 0.9397 | 0.9323 | 0.0076 | donor | a0004 | HG01070.hp1 HG01071.hp2 HG02071.hp2 HG02148.hp2 HG02895.hp1 others(3): Show |
HG01934.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69153831 | - | 32 | -0.9637 | -0.9617 | -0.9615 | 0.0022 | acceptor | a0004 | HG02040.hp2 HG03579.hp2 NA18974.hp2 NA19060.hp2 |
HG00609.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69154009 | - | 32 | 0.9501 | 0.9500 | 0.9347 | 0.0154 | donor | a0004 | HG01243.hp2 | HG01934.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69153471 | - | 33 | -0.7650 | -0.7650 | -0.7638 | 0.0012 | acceptor | a0004 | HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01433.hp2 others(2): Show |
HG00609.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69153546 | - | 33 | 0.9887 | 0.9886 | 0.9885 | 0.0002 | donor | a0004 | HG01934.hp1 | HG00609.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69153305 | - | 34 | -0.9938 | -0.9937 | -0.9937 | 0.0002 | acceptor | a0004 | HG00733.hp2 HG01934.hp1 HG02040.hp2 HG03579.hp2 NA18974.hp2 others(1): Show |
HG02015.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69153399 | - | 34 | 0.9144 | 0.9141 | 0.9132 | 0.0012 | donor | a0004 | HG00609.hp2 | HG01934.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69152362 | - | 35 | -0.9626 | -0.9626 | -0.9623 | 0.0003 | acceptor | a0004 | HG01243.hp2 | HG00733.hp2 HG01934.hp1 HG02040.hp2 HG03579.hp2 NA18974.hp2 others(1): Show |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69152481 | - | 35 | 0.9623 | 0.9621 | 0.9619 | 0.0004 | donor | a0004 | HG00609.hp2 | HG02015.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69152043 | - | 36 | -0.7431 | -0.7431 | -0.7410 | 0.0021 | acceptor | a0004 | HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 others(29): Show |
HG00609.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69152183 | - | 36 | 0.8331 | 0.8287 | 0.8282 | 0.0049 | donor | a0004 | HG00733.hp2 HG01934.hp1 HG02040.hp2 HG03579.hp2 NA18974.hp2 others(1): Show |
HG00609.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69149984 | - | 37 | -0.9643 | -0.9643 | -0.9642 | 0.0002 | acceptor | a0004 | HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp2 others(30): Show |
HG01433.hp2 HG03017.hp2 HG03490.hp2 |
ABCA10 | chr17 | 69143007 | 69233824 |
| 69150063 | - | 37 | 0.9787 | 0.9785 | 0.9785 | 0.0002 | donor | a0004 | HG01433.hp2 HG03017.hp2 HG03490.hp2 |
HG00609.hp2 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69149033 | - | 38 | -0.9409 | -0.9408 | -0.9401 | 0.0008 | acceptor | a0004 | HG01243.hp2 HG02148.hp2 NA20752.hp1 |
NA19074.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69149088 | - | 38 | 0.9594 | 0.9591 | 0.9589 | 0.0005 | donor | a0004 | HG01433.hp2 HG03017.hp2 HG03490.hp2 |
NA19074.hp1 | ABCA10 | chr17 | 69143007 | 69233824 |
| 69148925 | - | 39 | 0.6341 | 0.6257 | 0.6238 | 0.0103 | donor | a0004 | HG01433.hp2 HG03017.hp2 HG03490.hp2 |
HG01243.hp2 HG02148.hp2 NA20752.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
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AHAPIDS ahapids
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ACHAPIDS achapids
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ACTHAPIDS acthapids
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ACTGHAPIDS actghapids
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haplotypeids haplotypeids
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impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 69149049:splice 69149049:variant goto | c.4515_4516delTCp.Gln1506fs | 402329 | Benign | ABCA10:10349 | SO:0001589 frameshift_variant |
MedGen:CN169374 | - | 1 | 2 | 4 | 41 | a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003a0004c0006t0011 | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074a0004c0004t0003g0105a0004c0004t0003g0141others(36): Show | HG00609.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 others(37): Show |
HIGH | chr17 | TGA | T | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
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ACHAPIDS achapids
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ACTHAPIDS acthapids
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ACTGHAPIDS actghapids
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haplotypeids haplotypeids
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study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
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impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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chr17:69228706
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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 |
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chr17:69192404
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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 |
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chr17:69192435
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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 |
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chr17:69192435
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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 |
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chr17:69223627
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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 | |
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chr17:69154035
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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 | |
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chr17:69192435
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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 |