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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.040 0.750 4 2009 2017
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 1.000 3 2011 2018
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2011 2018
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2016 2017
dbSNP: rs33996649
rs33996649
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.020 1.000 2 2009 2017
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs1518111
rs1518111
9 0.790 0.360 1 206771300 intron variant T/C snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs1554286
rs1554286
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 0.010 1.000 1 2018 2018
dbSNP: rs3021094
rs3021094
8 0.827 0.360 1 206771607 intron variant T/G snv 8.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs3024490
rs3024490
11 0.742 0.520 1 206771966 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3790622
rs3790622
3 0.882 0.320 1 206771818 intron variant G/A snv 1.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs7518660
rs7518660
2 0.925 0.120 1 67219760 intron variant G/A snv 0.43 0.47 0.010 1.000 1 2015 2015
dbSNP: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.090 1.000 9 2005 2017
dbSNP: rs6761637
rs6761637
1 1.000 0.080 2 118981487 missense variant T/C snv 8.3E-02 0.13 0.020 1.000 2 2011 2018
dbSNP: rs897200
rs897200
4 0.851 0.280 2 191153045 upstream gene variant T/C snv 0.54 0.020 1.000 2 2014 2018
dbSNP: rs1010
rs1010
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs10208770
rs10208770
1 1.000 0.080 2 230170151 intron variant T/G snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs10498244
rs10498244
1 1.000 0.080 2 230173117 non coding transcript exon variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1135791
rs1135791
2 0.925 0.080 2 230177560 missense variant A/G snv 0.42 0.40 0.010 < 0.001 1 2017 2017
dbSNP: rs11568350
rs11568350
9 0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs12477677
rs12477677
2 1.000 0.080 2 207666398 intron variant T/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs12998782
rs12998782
3 0.882 0.160 2 118967804 intron variant C/T snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs1371562
rs1371562
1 1.000 0.080 2 118975372 intron variant G/T snv 0.33 0.010 1.000 1 2011 2011
dbSNP: rs1372834938
rs1372834938
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2003 2003
dbSNP: rs16826860
rs16826860
1 1.000 0.080 2 230182908 intron variant G/A snv 7.2E-02 0.010 1.000 1 2014 2014