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: rs201234174
rs201234174
2 0.925 0.080 11 1017655 missense variant G/A snv 4.0E-02 3.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs3739817
rs3739817
1 1.000 0.080 9 127824409 synonymous variant G/A snv 9.0E-02 7.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 < 0.001 1 2019 2019
dbSNP: rs55805125
rs55805125
1 1.000 0.080 4 86334965 intron variant -/CA delins 0.010 1.000 1 2016 2016