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: rs80338796
rs80338796
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.800 1.000 1 2007 2007
dbSNP: rs80338797
rs80338797
7 0.827 0.160 3 12584624 missense variant G/C;T snv 0.800 1.000 1 2007 2007
dbSNP: rs121434594
rs121434594
5 0.827 0.160 3 12604189 missense variant G/A;C;T snv 0.700 0
dbSNP: rs397516813
rs397516813
3 0.925 0.160 3 12599717 missense variant C/G snv 0.700 0
dbSNP: rs397516830
rs397516830
5 0.827 0.160 3 12604182 missense variant A/C;G;T snv 0.700 0
dbSNP: rs886039607
rs886039607
2 0.925 0.160 3 12608842 missense variant C/G snv 0.700 0