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: rs34376731
rs34376731
2 0.925 0.040 12 54581014 missense variant C/T snv 4.6E-03 1.9E-02 0.020 1.000 2 2008 2009
dbSNP: rs1249958
rs1249958
3 0.925 0.040 12 54582053 missense variant C/T snv 2.7E-02 0.010 1.000 1 2015 2015