Source: ALL
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: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.100 0.979 47 2004 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.842 38 2003 2020
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.060 1.000 6 2010 2018
dbSNP: rs373611092
rs373611092
5 0.925 0.160 22 19962794 missense variant A/G snv 8.4E-05 4.9E-05 0.050 1.000 5 2009 2019
dbSNP: rs4633
rs4633
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.050 0.800 5 2012 2019
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.050 1.000 5 2012 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.050 1.000 5 2010 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2013 2019
dbSNP: rs165774
rs165774
11 0.807 0.120 22 19965038 3 prime UTR variant G/A snv 0.27 0.040 1.000 4 2013 2018
dbSNP: rs6746030
rs6746030
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.040 1.000 4 2010 2018
dbSNP: rs10877969
rs10877969
6 0.882 0.120 12 63153459 intron variant T/C snv 0.26 0.030 1.000 3 2011 2019
dbSNP: rs11466112
rs11466112
3 1.000 0.080 1 115286135 missense variant G/A snv 1.6E-05 7.0E-06 0.030 1.000 3 2009 2019
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.030 1.000 3 2010 2020
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.030 1.000 3 2009 2015
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2014 2019
dbSNP: rs6269
rs6269
10 0.827 0.240 22 19962429 5 prime UTR variant A/G snv 0.38 0.030 1.000 3 2014 2019
dbSNP: rs1718125
rs1718125
6 0.851 0.200 12 121155216 intron variant C/T snv 0.15 0.19 0.020 1.000 2 2014 2019
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.020 1.000 2 2014 2016
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2010 2017
dbSNP: rs222747
rs222747
8 0.827 0.240 17 3589906 missense variant C/A;G;T snv 0.72; 4.5E-06 0.020 1.000 2 2017 2019
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.020 1.000 2 2014 2016
dbSNP: rs5277
rs5277
9 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs563649
rs563649
2 1.000 0.040 6 154086832 5 prime UTR variant C/T snv 9.8E-02 0.020 1.000 2 2009 2017
dbSNP: rs6267
rs6267
9 0.827 0.200 22 19962740 missense variant G/A;T snv 4.8E-05; 1.4E-02 0.020 1.000 2 2014 2017
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.020 1.000 2 2014 2019