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: rs747259064
rs747259064
1 1.000 7 88136013 missense variant G/A;T snv 8.1E-06 7.0E-06 0.800 1.000 1 2016 2016
dbSNP: rs1554519462
rs1554519462
1 1.000 7 88179030 frameshift variant G/- del 0.700 0