Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1565191262
rs1565191262
4 1.000 0.080 11 59125559 frameshift variant T/- del 0.700 0
dbSNP: rs104895223
rs104895223
4 0.882 0.240 12 6334108 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1815739
rs1815739
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs114012716
rs114012716
1 1.000 0.080 6 31466589 non coding transcript exon variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs114042950
rs114042950
1 1.000 0.080 6 32699098 intergenic variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs114050967
rs114050967
1 1.000 0.080 6 31537703 intron variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs114388793
rs114388793
1 1.000 0.080 6 32699566 intergenic variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs114771815
rs114771815
1 1.000 0.080 6 31484059 intron variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs115146037
rs115146037
1 1.000 0.080 6 31466554 non coding transcript exon variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs115902351
rs115902351
1 1.000 0.080 6 31466844 non coding transcript exon variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs116088953
rs116088953
1 1.000 0.080 6 31475005 intron variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs116662199
rs116662199
1 1.000 0.080 6 31481199 non coding transcript exon variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs3130614
rs3130614
1 1.000 0.080 6 31508681 intron variant T/A snv 7.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs9267488
rs9267488
1 1.000 0.080 6 31546470 splice region variant A/G snv 8.1E-02 9.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs3129843
rs3129843
5 0.827 0.160 6 32427949 intergenic variant A/G snv 6.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs6599390
rs6599390
1 1.000 0.080 4 962259 intron variant A/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 2 2016 2019
dbSNP: rs5754467
rs5754467
4 0.851 0.160 22 21630805 upstream gene variant A/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs10174238
rs10174238
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs10954214
rs10954214
4 0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs11066301
rs11066301
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs11085725
rs11085725
4 0.851 0.160 19 10351837 intron variant C/T snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs112846137
rs112846137
4 0.851 0.160 3 160595133 intergenic variant G/T snv 5.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs1217393
rs1217393
4 0.851 0.160 1 113891324 intron variant G/A snv 0.42 0.700 1.000 1 2019 2019