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: rs779326570
rs779326570
1 1.000 12 48968025 missense variant C/T snv 2.0E-05 2.8E-05 0.800 1.000 1 2016 2016
dbSNP: rs766021478
rs766021478
1 1.000 12 48966479 stop gained C/T snv 0.700 0