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: rs121913223
rs121913223
2 1.000 0.040 5 80633904 missense variant T/A snv 4.0E-06 0.810 1.000 2 2011 2011
dbSNP: rs387906619
rs387906619
1 1.000 0.040 5 80649393 missense variant G/A snv 4.1E-06 0.800 1.000 2 2011 2011