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: rs370242930
rs370242930
1 1.000 18 32065917 missense variant C/T snv 2.0E-05 7.0E-06 0.800 1.000 1 2014 2014
dbSNP: rs786201014
rs786201014
1 1.000 18 32042196 missense variant G/A snv 0.800 1.000 1 2014 2014
dbSNP: rs373764886
rs373764886
1 1.000 18 32045716 stop gained C/A;T snv 4.0E-05 0.700 1.000 1 2014 2014