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: rs2069837
rs2069837
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs10934524
rs10934524
1 3 96431316 intergenic variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10957550
rs10957550
1 8 71382353 intron variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs11574358
rs11574358
WRN
1 8 31147066 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs12143832
rs12143832
1 1 21378943 regulatory region variant T/C snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs1262476
rs1262476
2 6 126665850 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12949468
rs12949468
1 17 62516455 non coding transcript exon variant G/A snv 1.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs138762279
rs138762279
1 5 174283195 intergenic variant T/- del 0.34 0.700 1.000 1 2019 2019
dbSNP: rs1416280
rs1416280
1 6 102438768 intergenic variant C/G snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs1425609
rs1425609
1 3 162964207 intergenic variant G/A snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs145672791
rs145672791
1 21 13377702 intergenic variant G/A snv 8.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs1487614
rs1487614
1 4 42267463 non coding transcript exon variant T/C snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs1950902
rs1950902
11 0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83 0.700 1.000 1 2018 2018
dbSNP: rs2149954
rs2149954
5 0.882 0.080 5 158393594 intron variant C/T snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs2229188
rs2229188
1 7 92134309 missense variant A/G snv 4.3E-06 0.700 1.000 1 2015 2015
dbSNP: rs2292664
rs2292664
1 12 130437119 missense variant G/A;C snv 9.2E-06; 5.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs2440012
rs2440012
1 13 18865983 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2704588
rs2704588
1 4 88928621 intron variant T/C snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs2758603
rs2758603
2 1 156229203 intron variant T/C snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs35262860
rs35262860
RP1
1 8 54566349 intron variant -/CT delins 0.31 0.700 1.000 1 2019 2019
dbSNP: rs3830412
rs3830412
1 3 124678475 non coding transcript exon variant T/- delins 0.16 0.700 1.000 1 2019 2019
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 1 2019 2019
dbSNP: rs4639950
rs4639950
1 11 119345845 missense variant T/C snv 4.0E-03 1.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs4904670
rs4904670
1 14 90303866 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs61856137
rs61856137
1 10 5045786 intron variant G/T snv 0.21 0.700 1.000 1 2016 2016