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: rs7538876
rs7538876
6 0.807 0.120 1 17395867 intron variant G/A snv 0.37 0.700 1.000 3 2008 2015
dbSNP: rs801114
rs801114
5 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 0.700 1.000 3 2008 2015
dbSNP: rs12070203
rs12070203
3 0.882 0.040 1 228858641 downstream gene variant C/T snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs1870940
rs1870940
4 0.851 0.080 1 155011887 intron variant G/A snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
dbSNP: rs41271951
rs41271951
4 0.882 0.040 1 150764744 missense variant A/G snv 5.1E-02 5.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs4149909
rs4149909
3 0.882 0.040 1 241860596 missense variant A/G;T snv 2.4E-02; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs535930
rs535930
3 0.882 0.040 1 110181866 intron variant G/A snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs57142672
rs57142672
3 0.882 0.040 1 17418040 intron variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs61824911
rs61824911
3 0.882 0.040 1 228843990 intergenic variant A/G snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs7528427
rs7528427
3 0.882 0.040 1 17419777 intron variant C/T snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs12466910
rs12466910
3 0.882 0.040 2 11386590 downstream gene variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs13014235
rs13014235
5 0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 0.700 1.000 1 2015 2015
dbSNP: rs1800440
rs1800440
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs2080303
rs2080303
3 0.882 0.040 2 201300483 intron variant T/C snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs231726
rs231726
7 0.790 0.200 2 203876143 downstream gene variant C/T snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs3769823
rs3769823
6 0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 0.700 1.000 1 2017 2017
dbSNP: rs57244888
rs57244888
3 0.882 0.040 2 16280877 intron variant T/C snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs62112661
rs62112661
3 0.882 0.040 2 5544654 intergenic variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6707137
rs6707137
4 0.882 0.040 2 88254832 regulatory region variant G/A snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs6714430
rs6714430
3 0.882 0.040 2 201288961 intron variant C/T snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs6739779
rs6739779
3 0.882 0.040 2 16299921 intron variant C/T snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs7563677
rs7563677
3 0.882 0.040 2 160500206 intergenic variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs79522206
rs79522206
3 0.882 0.040 2 7564729 intergenic variant G/A snv 2.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs11719821
rs11719821
LPP
3 0.882 0.040 3 188370530 intron variant T/C snv 0.36 0.700 1.000 1 2019 2019