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: rs2687201
rs2687201
6 0.925 0.080 3 70879779 intergenic variant A/C;G snv 0.710 1.000 2 2013 2015
dbSNP: rs11789015
rs11789015
6 0.882 0.080 9 93953746 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs9257809
rs9257809
10 0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02 0.820 1.000 4 2012 2017
dbSNP: rs1548445
rs1548445
1 1.000 0.080 16 19680261 intron variant A/G snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs4800353
rs4800353
5 0.925 0.080 18 22074176 intergenic variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2010 2010
dbSNP: rs7632500
rs7632500
5 0.925 0.080 3 168007561 downstream gene variant A/G snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs9823696
rs9823696
2 0.925 0.080 3 184065565 downstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4676893
rs4676893
3 0.882 0.080 3 70868488 intergenic variant A/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs66725070
rs66725070
1 1.000 0.080 15 57975219 intron variant ACAT/- delins 0.35 0.700 1.000 1 2016 2016
dbSNP: rs7852462
rs7852462
2 0.925 0.080 9 97548219 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2010 2010
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2008 2008
dbSNP: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs9936833
rs9936833
6 0.882 0.160 16 86369512 intergenic variant C/T snv 0.64 0.820 1.000 3 2012 2017
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs2518720
rs2518720
2 0.925 0.080 9 21978980 intron variant C/T snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs4769585
rs4769585
1 1.000 0.080 13 27976441 downstream gene variant C/T snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs536289169
rs536289169
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2010 2010
dbSNP: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs6449586
rs6449586
1 1.000 0.080 5 51339044 intergenic variant C/T snv 0.64 0.800 1.000 1 2013 2013
dbSNP: rs764643047
rs764643047
5 0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs9918259
rs9918259
2 0.925 0.080 5 662977 3 prime UTR variant C/T snv 2.1E-03 0.700 1.000 1 2016 2016