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: rs116171274
rs116171274
3 0.882 0.120 8 64596707 missense variant G/A;T snv 5.2E-04; 8.0E-06 0.710 1.000 2 2016 2017
dbSNP: rs121908613
rs121908613
3 0.882 0.120 8 64615716 stop gained A/G;T snv 7.6E-05 0.710 1.000 2 2016 2017
dbSNP: rs1554524697
rs1554524697
1 1.000 0.080 8 64615168 frameshift variant -/A delins 0.700 1.000 1 2017 2017
dbSNP: rs367916692
rs367916692
2 0.925 0.080 8 64596914 missense variant G/A snv 5.2E-05 7.0E-06 0.010 1.000 1 2014 2014