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: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs397514606
rs397514606
14 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs587784482
rs587784482
2 0.925 0.240 12 49185218 missense variant G/A;T snv 0.700 0
dbSNP: rs863223361
rs863223361
1 1.000 0.080 14 101985963 missense variant G/A snv 0.700 0
dbSNP: rs863223377
rs863223377
1 1.000 0.080 19 36090516 missense variant T/C snv 0.700 0