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 0.900 1.000 11 2005 2019
dbSNP: rs201745983
rs201745983
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.030 1.000 3 2010 2018
dbSNP: rs886205
rs886205
8 0.827 0.360 12 111766623 intron variant A/G snv 0.35 0.020 1.000 2 2016 2017
dbSNP: rs940553638
rs940553638
6 0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2018 2018