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: rs147277743
rs147277743
2 0.925 0.040 1 16991749 missense variant C/T snv 1.8E-04 7.7E-05 0.050 0.400 5 2010 2016
dbSNP: rs12564040
rs12564040
1 1.000 0.040 1 16992562 missense variant G/C;T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs151117874
rs151117874
2 0.925 0.040 1 17005754 missense variant G/A;C snv 9.4E-05; 4.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs151181674
rs151181674
1 1.000 0.040 1 16986334 missense variant C/G;T snv 1.3E-03 0.010 1.000 1 2014 2014