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: rs1805007
rs1805007
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 3 2011 2019
dbSNP: rs10810657
rs10810657
7 0.827 0.080 9 16884588 regulatory region variant T/A;G snv 0.700 1.000 2 2016 2019
dbSNP: rs421284
rs421284
3 0.882 0.040 5 1325475 non coding transcript exon variant T/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs7006527
rs7006527
4 0.851 0.040 8 100012277 intron variant A/C;T snv 0.700 1.000 2 2014 2015
dbSNP: rs10424978
rs10424978
4 0.851 0.080 19 4837545 upstream gene variant C/A;G snv 0.700 1.000 1 2019 2019
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: rs12205199
rs12205199
3 0.882 0.040 6 150032420 upstream gene variant C/A;T snv 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: rs13261635
rs13261635
3 0.882 0.040 8 119070732 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs141115006
rs141115006
3 0.882 0.040 8 99992792 intron variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs16891982
rs16891982
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.700 1.000 1 2019 2019
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: rs1887004
rs1887004
3 0.882 0.040 10 13698917 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs191177147
rs191177147
LPP
3 0.882 0.040 3 188374758 intron variant G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs209901
rs209901
3 0.882 0.040 20 39117811 regulatory region variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs214803
rs214803
4 0.851 0.040 20 2309687 missense variant C/A;G;T snv 0.82; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs2199333
rs2199333
3 0.882 0.040 8 99999120 intron variant C/G;T snv 0.700 1.000 1 2019 2019
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: 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: rs55775505
rs55775505
3 0.882 0.040 6 22057337 intron variant C/A;G;T snv 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: rs62112661
rs62112661
3 0.882 0.040 2 5544654 intergenic variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6908626
rs6908626
3 0.882 0.040 6 90296024 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7328654
rs7328654
3 0.882 0.040 13 32380424 intron variant G/A;T snv 0.700 1.000 1 2019 2019