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: rs11887534
rs11887534
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.030 1.000 3 2010 2014
dbSNP: rs1205128669
rs1205128669
2 0.925 0.040 2 43877848 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs4148217
rs4148217
11 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs755130225
rs755130225
2 0.925 0.040 2 43877845 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010