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: rs191930922
rs191930922
1 1.000 17 61408214 missense variant G/A snv 8.2E-04 3.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs764896880
rs764896880
1 1.000 17 61408189 missense variant C/A;T snv 8.1E-06 0.010 1.000 1 2018 2018