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: rs1409568
rs1409568
2 1.000 0.040 10 118871273 intron variant T/C snv 8.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs2952621
rs2952621
4 0.882 0.080 2 129240870 downstream gene variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs382140
rs382140
1 7 108141755 intergenic variant A/G snv 0.74 0.010 1.000 1 2012 2012
dbSNP: rs17228602
rs17228602
2 7 100890786 3 prime UTR variant C/T snv 1.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs17228616
rs17228616
3 1.000 0.080 7 100890100 3 prime UTR variant G/T snv 9.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs772527880
rs772527880
1 2 227531108 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs764987358
rs764987358
2 1.000 0.160 8 107347040 missense variant C/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.020 1.000 2 2013 2017
dbSNP: rs7118900
rs7118900
1 11 113396099 missense variant G/A snv 0.25 0.25 0.010 1.000 1 2011 2011
dbSNP: rs1803274
rs1803274
13 0.763 0.360 3 165773492 missense variant C/T snv 0.18 0.18 0.010 1.000 1 2019 2019
dbSNP: rs3495
rs3495
3 0.925 0.160 3 165773193 3 prime UTR variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11030096
rs11030096
3 0.925 0.160 11 27643996 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2014 2014
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2013 2013
dbSNP: rs1333045
rs1333045
14 0.776 0.280 9 22119196 non coding transcript exon variant T/C snv 0.50 0.010 1.000 1 2020 2020
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2018 2018
dbSNP: rs2023239
rs2023239
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs2180619
rs2180619
3 1.000 0.040 6 88168233 upstream gene variant G/A snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs9444584
rs9444584
4 0.882 0.160 6 88152840 intron variant C/T snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs9450898
rs9450898
3 0.925 0.160 6 88154344 intron variant C/T snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2004 2013