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: rs73183643
rs73183643
3 0.882 0.040 7 101775373 intergenic variant G/A snv 0.17 0.700 1.000 2 2016 2019
dbSNP: rs7874604
rs7874604
3 0.882 0.040 9 22054691 intron variant T/C snv 0.58 0.700 1.000 2 2016 2019
dbSNP: rs10093547
rs10093547
3 0.882 0.040 8 76562310 intron variant T/G snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs10425559
rs10425559
7 0.807 0.040 19 4837475 upstream gene variant A/G snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs1050529
rs1050529
3 0.882 0.040 6 31356838 missense variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs11993814
rs11993814
3 0.882 0.040 8 80477556 intron variant C/T snv 0.39 0.700 1.000 1 2016 2016
dbSNP: rs141115006
rs141115006
3 0.882 0.040 8 99992792 intron variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs191177147
rs191177147
LPP
3 0.882 0.040 3 188374758 intron variant G/T snv 0.700 1.000 1 2016 2016
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: rs2116709
rs2116709
3 0.882 0.040 3 71572518 non coding transcript exon variant T/A snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs214785
rs214785
3 0.882 0.040 20 2302811 intron variant C/T snv 0.73 0.700 1.000 1 2016 2016
dbSNP: rs2294214
rs2294214
6 0.882 0.040 6 22056694 splice region variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs35407
rs35407
6 0.807 0.080 5 33946466 3 prime UTR variant A/C;G snv 0.700 1.000 1 2016 2016
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: rs7776701
rs7776701
3 0.882 0.040 7 47403036 intron variant T/C snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs7907606
rs7907606
8 0.790 0.120 10 103920874 upstream gene variant T/G snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs9267650
rs9267650
3 0.882 0.040 6 31857135 downstream gene variant A/T snv 6.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs9275642
rs9275642
3 0.882 0.040 6 32717158 upstream gene variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs16917546
rs16917546
6 0.851 0.040 10 62637778 intron variant T/C snv 0.29 0.700 1.000 1 2017 2017
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: rs4761496
rs4761496
4 0.851 0.040 12 94733833 regulatory region variant T/A;C snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs75790006
rs75790006
4 0.851 0.040 4 43211547 intron variant T/G snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs10102591
rs10102591
3 0.882 0.040 8 80479448 intron variant G/T snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs10228836
rs10228836
3 0.882 0.040 7 50136567 intron variant A/G snv 0.49 0.700 1.000 1 2019 2019