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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2012 2014
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs1457547311
rs1457547311
4 0.851 0.080 2 113131082 synonymous variant G/A snv 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 < 0.001 1 2005 2005
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs187084
rs187084
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs2297518
rs2297518
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 < 0.001 1 2010 2010
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 < 0.001 1 2005 2005
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs5743836
rs5743836
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 < 0.001 1 2005 2005