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: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.780 1.000 10 2001 2019
dbSNP: rs4646776
rs4646776
2 0.925 0.120 12 111792215 intron variant G/A;C snv 1.9E-02 5.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs201745983
rs201745983
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.010 1.000 1 2010 2010