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: rs1800803
rs1800803
1 1.000 0.080 4 99574424 intron variant A/T snv 0.43 0.010 1.000 1 2011 2011
dbSNP: rs868
rs868
4 0.851 0.160 9 99149374 3 prime UTR variant A/G snv 0.17 0.020 0.500 2 2014 2017
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2019 2019
dbSNP: rs76755915
rs76755915
1 1.000 0.080 4 97038456 intergenic variant G/C snv 1.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs62042908
rs62042908
1 1.000 0.080 15 93306014 intron variant C/T snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs3017887
rs3017887
2 0.925 0.120 11 89492920 intron variant A/C snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs769398333
rs769398333
1 1.000 0.080 12 8857954 missense variant C/A;T snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs1372834938
rs1372834938
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs779916209
rs779916209
1 1.000 0.080 2 8802958 missense variant G/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs73132848
rs73132848
6 0.882 0.080 3 8764738 intron variant G/A snv 9.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs72613567
rs72613567
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 1.000 1 2019 2019
dbSNP: rs4969170
rs4969170
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 0.020 1.000 2 2012 2018
dbSNP: rs4804803
rs4804803
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.020 1.000 2 2010 2012
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2014 2014
dbSNP: rs4619915
rs4619915
3 0.882 0.120 4 76034048 3 prime UTR variant A/G snv 0.61 0.020 1.000 2 2014 2015
dbSNP: rs3921
rs3921
8 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 0.030 1.000 3 2014 2018
dbSNP: rs8878
rs8878
5 0.827 0.280 4 76021147 3 prime UTR variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs10336
rs10336
4 0.851 0.240 4 76001835 3 prime UTR variant A/G;T snv 0.020 1.000 2 2014 2015
dbSNP: rs4074
rs4074
6 0.827 0.200 4 73870427 intron variant A/G snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs35467001
rs35467001
6 0.882 0.080 17 73383923 missense variant G/A snv 5.3E-02 6.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs2492965
rs2492965
1 1.000 0.080 6 72445473 intergenic variant T/C snv 0.90 0.700 1.000 1 2019 2019