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: rs121918453
rs121918453
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121918454
rs121918454
17 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121918464
rs121918464
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs397507510
rs397507510
8 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.010 1.000 1 2016 2016