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: rs75184679
rs75184679
16 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 1.000 11 2006 2016
dbSNP: rs74555752
rs74555752
2 0.925 0.120 13 50945470 missense variant T/G snv 0.010 1.000 1 2017 2017