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: rs169068
rs169068
12 0.742 0.280 16 1079872 missense variant C/T snv 0.54 0.50 0.010 1.000 1 2002 2002
dbSNP: rs34608001
rs34608001
5 0.827 0.080 16 1079441 synonymous variant G/A snv 1.7E-02 1.5E-02 0.010 1.000 1 2002 2002
dbSNP: rs4988483
rs4988483
11 0.752 0.240 16 1079010 missense variant C/A snv 3.7E-02 3.7E-02 0.010 1.000 1 2002 2002