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: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.750 16 2002 2018
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.100 1.000 10 2005 2016
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.060 0.667 6 2002 2016
dbSNP: rs148611340
rs148611340
7 0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs2293035
rs2293035
3 0.882 0.080 19 43546923 synonymous variant G/A snv 1.6E-04 1.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs377566281
rs377566281
3 0.925 0.080 19 43552083 missense variant C/T snv 5.6E-05 2.1E-05 0.010 1.000 1 2015 2015