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: rs548204329
rs548204329
1 1.000 0.080 2 240797722 missense variant G/A;T snv 4.1E-06 0.700 1.000 1 2017 2017
dbSNP: rs786200949
rs786200949
4 0.851 0.120 2 240788208 missense variant G/A snv 0.700 0