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: rs121909497
rs121909497
3 0.925 0.080 11 102955390 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs781754383
rs781754383
EGF
3 0.882 0.080 4 109960942 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2015 2015