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: rs1050851
rs1050851
1 1.000 0.080 14 35403720 synonymous variant G/A snv 0.17 0.15 0.010 1.000 1 2015 2015
dbSNP: rs10854554
rs10854554
2 0.925 0.080 22 19623159 regulatory region variant A/G snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs121907896
rs121907896
5 0.851 0.200 11 64591825 missense variant G/A snv 1.8E-04 8.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs12457893
rs12457893
1 1.000 0.080 18 63258928 intron variant A/C snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1370328347
rs1370328347
1 1.000 0.080 17 63895621 missense variant C/A;T snv 1.0E-05; 1.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1451506414
rs1451506414
4 0.882 0.200 11 64598561 synonymous variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2015 2015
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs1800471
rs1800471
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800777
rs1800777
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 < 0.001 1 2019 2019
dbSNP: rs1955656
rs1955656
1 1.000 0.080 14 94579038 intron variant G/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2093266
rs2093266
1 1.000 0.080 14 94566450 intron variant G/A snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs2233406
rs2233406
12 0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs2233417
rs2233417
1 1.000 0.080 14 35402888 intron variant C/T snv 0.14 0.13 0.010 1.000 1 2015 2015
dbSNP: rs2276415
rs2276415
6 0.882 0.160 11 77590296 missense variant G/A snv 0.14 0.13 0.010 1.000 1 2016 2016
dbSNP: rs2430561
rs2430561
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs41507953
rs41507953
10 0.790 0.280 8 27500988 missense variant A/G snv 8.7E-02 0.13 0.010 1.000 1 2017 2017
dbSNP: rs561633150
rs561633150
2 0.925 0.200 4 9980627 missense variant C/T snv 6.1E-04 9.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs62341639
rs62341639
2 0.925 0.080 4 184238281 intergenic variant C/T snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs62341657
rs62341657
1 1.000 0.080 4 184238385 intergenic variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs696
rs696
22 0.708 0.520 14 35401887 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs753482595
rs753482595
3 0.925 0.200 4 9920389 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs767816037
rs767816037
1 1.000 0.080 17 63872725 missense variant C/G;T snv 4.5E-05 0.010 1.000 1 2014 2014