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: rs121909512
rs121909512
2 0.925 17 4902010 missense variant G/A snv 1.2E-05 1.4E-05 0.800 1.000 3 1996 2012
dbSNP: rs121909516
rs121909516
2 0.925 0.080 17 4901944 missense variant G/A;C snv 2.7E-04; 3.6E-05 0.800 1.000 3 1996 2012
dbSNP: rs121909517
rs121909517
1 1.000 17 4899036 missense variant C/A;G snv 4.1E-06; 1.2E-05 0.800 1.000 3 1996 2012
dbSNP: rs193919341
rs193919341
1 1.000 17 4902461 missense variant A/G snv 0.800 1.000 3 1996 2012
dbSNP: rs372635387
rs372635387
1 1.000 17 4903027 missense variant C/T snv 2.8E-05 2.1E-05 0.700 1.000 3 1996 2012
dbSNP: rs753828284
rs753828284
2 0.925 0.080 17 4901172 frameshift variant TGGCCCA/- delins 3.7E-05 7.7E-05 0.700 0