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: 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: 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: rs491603
rs491603
2 1.000 0.080 1 36066715 3 prime UTR variant T/A;C snv 0.700 1.000 1 2018 2018
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: rs3072
rs3072
2 0.925 0.160 2 20678646 3 prime UTR variant T/C snv 0.30 0.020 0.500 2 2015 2016
dbSNP: rs11901649
rs11901649
3 0.882 0.080 2 21027351 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7255
rs7255
3 0.925 0.080 2 20679060 3 prime UTR variant T/A;C snv 0.700 1.000 1 2016 2016
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: rs2687201
rs2687201
6 0.925 0.080 3 70879779 intergenic variant A/C;G snv 0.710 1.000 2 2013 2015
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: rs2687202
rs2687202
2 0.925 0.080 3 70880832 regulatory region variant T/C snv 0.64 0.700 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: 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: 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: rs9823696
rs9823696
2 0.925 0.080 3 184065565 downstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3776082
rs3776082
1 1.000 0.080 5 150164482 upstream gene variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs3776083
rs3776083
1 1.000 0.080 5 150188407 upstream gene variant G/A;C;T snv 0.010 1.000 1 2014 2014
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: rs717746
rs717746
1 1.000 0.080 5 150176995 intron variant T/A;C;G snv 0.010 1.000 1 2014 2014
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
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: 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: 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: rs62423175
rs62423175
2 0.925 0.080 6 61485463 intergenic variant G/A snv 0.700 1.000 1 2016 2016