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: rs121909283
rs121909283
4 0.882 0.120 10 70435399 stop gained C/A;T snv 3.1E-04 0.700 0
dbSNP: rs555563029
rs555563029
1 1.000 0.120 10 70435353 missense variant C/T snv 4.0E-06 0.700 0