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: rs13098911
rs13098911
5 0.882 0.200 3 46193709 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs4987053
rs4987053
1 1.000 0.080 3 46265209 synonymous variant T/C snv 9.2E-02; 4.0E-06 9.1E-02 0.020 0.500 2 2001 2007
dbSNP: rs755441932
rs755441932
1 1.000 0.080 3 46265165 missense variant A/G snv 5.8E-05 1.4E-05 0.010 1.000 1 2007 2007