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: rs116998555
rs116998555
3 0.882 0.080 2 218890118 missense variant C/A;T snv 4.0E-06; 1.9E-03 0.010 1.000 1 2014 2014
dbSNP: rs147680216
rs147680216
11 0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04 0.010 1.000 1 2014 2014