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: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.080 1.000 8 2013 2019
dbSNP: rs2234256
rs2234256
3 0.882 0.120 6 41158917 missense variant A/G snv 1.8E-02 4.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs2234258
rs2234258
1 1.000 0.080 6 41158691 stop gained C/T snv 3.1E-03 1.1E-02 0.010 1.000 1 2015 2015