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: rs397515524
rs397515524
1 1.000 0.120 8 63066035 stop gained C/A;T snv 4.0E-06; 2.4E-05 0.800 1.000 7 1995 2014
dbSNP: rs397515526
rs397515526
1 1.000 0.120 8 63061353 missense variant C/G snv 0.800 1.000 7 1995 2014
dbSNP: rs121917850
rs121917850
2 0.925 0.120 8 63064294 missense variant C/T snv 5.6E-05 9.8E-05 0.800 1.000 5 1995 2004
dbSNP: rs35916840
rs35916840
1 1.000 0.120 8 63064208 missense variant G/A snv 2.0E-05 2.8E-05 0.800 1.000 2 2010 2014