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: rs4961
rs4961
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.100 0.947 19 1997 2017
dbSNP: rs201637172
rs201637172
1 1.000 0.040 4 2894717 missense variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs3755885
rs3755885
1 1.000 0.040 4 2886214 intron variant C/G snv 4.3E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs4963
rs4963
6 0.827 0.120 4 2915035 missense variant C/G;T snv 0.20 0.18 0.010 1.000 1 2013 2013