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: rs9332967
rs9332967
7 0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 0.020 1.000 2 2008 2009
dbSNP: rs1057517828
rs1057517828
1 1.000 2 31580801 missense variant C/G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs121434245
rs121434245
3 0.882 0.200 2 31580737 missense variant A/T snv 0.010 1.000 1 2010 2010