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: rs121434594
rs121434594
5 0.827 0.160 3 12604189 missense variant G/A;C;T snv 0.700 1.000 2 2007 2007
dbSNP: rs869025501
rs869025501
1 1.000 0.080 3 12604191 missense variant G/A snv 0.700 1.000 1 2007 2007
dbSNP: rs727505017
rs727505017
3 0.882 0.200 3 12604201 missense variant A/G;T snv 0.700 0