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: rs74597329
rs74597329
1 1.000 0.080 19 39248515 missense variant T/A;G snv 0.22 0.700 1.000 2 2019 2019
dbSNP: rs4803221
rs4803221
2 1.000 0.080 19 39248489 missense variant C/G snv 0.17 0.21 0.700 1.000 1 2019 2019
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.100 0.969 196 2009 2019
dbSNP: rs368234815
rs368234815
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.100 1.000 18 2014 2019
dbSNP: rs117648444
rs117648444
3 0.882 0.160 19 39247938 missense variant G/A snv 0.25 8.1E-02 0.030 1.000 3 2017 2019
dbSNP: rs377155886
rs377155886
2 1.000 0.080 19 39247213 missense variant T/C snv 1.6E-03 0.010 1.000 1 2018 2018