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: rs138227502
rs138227502
2 0.925 0.040 3 186853221 missense variant C/T snv 1.8E-04 5.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs185847354
rs185847354
11 0.763 0.160 3 186854460 missense variant T/C snv 3.1E-04 7.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs201989364
rs201989364
3 0.882 0.080 3 186854295 missense variant A/G snv 6.4E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs74577862
rs74577862
3 0.882 0.080 3 186843903 intron variant G/A snv 1.8E-02 0.010 1.000 1 2017 2017