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: rs5742904
rs5742904
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.700 1.000 41 1989 2016
dbSNP: rs144467873
rs144467873
9 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.700 1.000 14 1995 2014
dbSNP: rs146377316
rs146377316
2 0.925 0.080 2 21007693 missense variant G/A;T snv 8.0E-06 0.700 1.000 1 2012 2012