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: rs11676922
rs11676922
4 0.925 0.160 2 100190478 intron variant T/A snv 0.51 0.700 1.000 1 2011 2011
dbSNP: rs7552544
rs7552544
1 1.000 0.080 1 100775337 intergenic variant T/C snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs32477
rs32477
1 1.000 0.080 5 100796873 intergenic variant C/G snv 9.4E-02 0.700 1.000 1 2007 2007
dbSNP: rs12048904
rs12048904
1 1.000 0.080 1 100865980 intergenic variant T/C snv 0.48 0.800 1.000 1 2011 2011
dbSNP: rs11581062
rs11581062
1 1.000 0.080 1 100941963 non coding transcript exon variant A/G snv 0.28 0.800 1.000 1 2011 2011
dbSNP: rs10516487
rs10516487
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs771767
rs771767
2 1.000 0.080 3 102029794 regulatory region variant A/G snv 0.70 0.800 1.000 2 2011 2016
dbSNP: rs1398607
rs1398607
2 1.000 0.080 3 102036894 TF binding site variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1254566330
rs1254566330
MOK
2 0.925 0.120 14 102250845 stop gained C/T snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2744148
rs2744148
1 1.000 0.080 16 1023552 intergenic variant A/G snv 0.15 0.810 1.000 2 2011 2013
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1222174664
rs1222174664
5 0.827 0.280 5 102477801 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7665090
rs7665090
6 0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs228614
rs228614
2 0.925 0.120 4 102657480 intron variant G/A snv 0.50 0.810 1.000 2 2011 2013
dbSNP: rs7924357
rs7924357
1 1.000 0.080 11 102757321 intron variant G/A snv 7.9E-02 0.800 1.000 1 2013 2013
dbSNP: rs12148050
rs12148050
1 1.000 0.080 14 102797451 intron variant A/G snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.030 0.333 3 2003 2018
dbSNP: rs10492972
rs10492972
1 1.000 0.080 1 10293054 intron variant T/C snv 0.32 0.830 1.000 4 2008 2011
dbSNP: rs3746544
rs3746544
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs1051312
rs1051312
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs26232
rs26232
4 0.925 0.160 5 103261019 intron variant C/T snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs34536443
rs34536443
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.730 1.000 4 2010 2019
dbSNP: rs2304256
rs2304256
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.010 1.000 1 2010 2010
dbSNP: rs8702
rs8702
5 0.851 0.160 14 103686015 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2007 2007