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: rs1799950
rs1799950
13 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs80357138
rs80357138
9 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs80357796
rs80357796
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.010 1.000 1 2005 2005