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: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2005 2008
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2005 2005
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: 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: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs150885638
rs150885638
1 1.000 0.080 10 77842176 missense variant T/C snv 6.1E-04 3.5E-04 0.010 1.000 1 2008 2008
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: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 < 0.001 1 2008 2008
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: rs2297518
rs2297518
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 < 0.001 1 2008 2008
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: 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: rs1202989817
rs1202989817
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
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: 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: 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: 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: rs9936833
rs9936833
6 0.882 0.160 16 86369512 intergenic variant C/T snv 0.64 0.820 1.000 3 2012 2017
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs3784262
rs3784262
6 0.882 0.160 15 57960908 intron variant T/A;C snv 0.820 0.667 3 2013 2016
dbSNP: rs2687201
rs2687201
6 0.925 0.080 3 70879779 intergenic variant A/C;G snv 0.710 1.000 2 2013 2015
dbSNP: rs10419226
rs10419226
5 0.925 0.080 19 18692362 intron variant T/G snv 0.67 0.800 1.000 1 2013 2013
dbSNP: rs11789015
rs11789015
6 0.882 0.080 9 93953746 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2178146
rs2178146
8 0.827 0.080 16 86430089 downstream gene variant T/C snv 0.31 0.700 1.000 1 2013 2013