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: rs523349
rs523349
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.020 1.000 2 2003 2014
dbSNP: rs121434250
rs121434250
7 0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs1311014616
rs1311014616
2 0.925 0.040 2 31580733 missense variant C/G snv 8.4E-06 0.010 1.000 1 2009 2009
dbSNP: rs9332964
rs9332964
10 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.010 1.000 1 2003 2003