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: rs5771069
rs5771069
2 0.925 0.120 22 49997051 missense variant A/G snv 0.56 0.55 0.800 1.000 3 2010 2017
dbSNP: rs142430606
rs142430606
3 0.925 0.040 22 49998059 missense variant G/A;T snv 1.1E-02; 4.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs200958270
rs200958270
2 1.000 0.040 22 49999850 missense variant T/C snv 1.1E-02 6.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs713669
rs713669
1 1.000 0.040 22 50013342 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018