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: rs121918462
rs121918462
13 0.742 0.320 12 112450398 missense variant C/T snv 0.040 0.750 4 2005 2015
dbSNP: rs121918464
rs121918464
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs397507510
rs397507510
8 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017