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: rs1919128
rs1919128
8 0.882 0.120 2 27578892 missense variant A/G snv 0.30 0.24 0.800 1.000 2 2011 2012
dbSNP: rs1919126
rs1919126
1 2 27578551 missense variant C/A snv 0.56 0.58 0.700 1.000 1 2012 2012
dbSNP: rs1919127
rs1919127
6 0.925 0.120 2 27578626 missense variant T/C snv 0.31 0.27 0.700 1.000 1 2009 2009