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: rs4244285
rs4244285
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.020 1.000 2 2008 2019
dbSNP: rs11592737
rs11592737
2 0.925 0.040 10 94843657 intron variant A/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs4986893
rs4986893
5 0.827 0.240 10 94780653 stop gained G/A snv 5.4E-03 1.5E-03 0.010 1.000 1 2019 2019
dbSNP: rs605059
rs605059
15 0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05 0.010 1.000 1 2015 2015