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: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121913281
rs121913281
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 0
dbSNP: rs587776802
rs587776802
2 1.000 0.080 3 179234358 frameshift variant -/A delins 0.700 0