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: rs769540174
rs769540174
4 1.000 0.080 10 72007559 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs771866012
rs771866012
8 0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06 0.700 0