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: rs763809932
rs763809932
1 1.000 0.080 2 178614110 missense variant G/A;T snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs1805377
rs1805377
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.010 < 0.001 1 2016 2016
dbSNP: rs2070150
rs2070150
6 0.827 0.280 1 161791486 missense variant G/C snv 0.14 9.2E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs2284553
rs2284553
9 0.776 0.240 21 33404389 intron variant A/G snv 0.69 0.010 < 0.001 1 2014 2014
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 < 0.001 1 2017 2017
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs3077
rs3077
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.050 0.600 5 2011 2014
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.050 0.800 5 2013 2018
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.060 1.000 6 2013 2019
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.040 1.000 4 2013 2019
dbSNP: rs2296651
rs2296651
13 0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03 0.040 1.000 4 2016 2018
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.040 1.000 4 2013 2019
dbSNP: rs9277535
rs9277535
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.040 1.000 4 2011 2018
dbSNP: rs1053004
rs1053004
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.020 1.000 2 2015 2017
dbSNP: rs1419881
rs1419881
4 0.851 0.280 6 31162816 3 prime UTR variant G/A snv 0.50 0.020 1.000 2 2013 2017
dbSNP: rs3130542
rs3130542
8 0.827 0.160 6 31264334 downstream gene variant A/G snv 0.81 0.020 1.000 2 2015 2016
dbSNP: rs3775290
rs3775290
15 0.742 0.280 4 186083063 missense variant C/A;T snv 0.30 0.020 1.000 2 2015 2016
dbSNP: rs5744174
rs5744174
13 0.742 0.360 1 223111186 missense variant A/G snv 0.39 0.34 0.020 1.000 2 2017 2018
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs10465885
rs10465885
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1056744559
rs1056744559
1 1.000 0.080 9 117713974 stop gained C/G;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs1061624
rs1061624
8 0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs10853728
rs10853728
5 0.851 0.160 19 39254506 downstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
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 2017 2017