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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 12 2005 2014
dbSNP: rs2234922
rs2234922
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.070 0.571 7 2010 2015
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.060 0.667 6 2011 2015
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 0.667 3 2013 2016
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 0.500 2 2015 2016
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2015 2016
dbSNP: rs1884444
rs1884444
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.020 1.000 2 2012 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2013 2013
dbSNP: rs6682925
rs6682925
11 0.776 0.160 1 67165579 intron variant C/T snv 0.47 0.020 1.000 2 2012 2019
dbSNP: rs11184738
rs11184738
1 1.000 0.080 1 106056773 intron variant G/A snv 7.3E-02 0.700 1.000 1 2011 2011
dbSNP: rs11265282
rs11265282
1 1.000 0.080 1 159804618 intron variant T/C snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs11548103
rs11548103
4 0.882 0.080 1 153615864 splice region variant C/T snv 0.40 0.39 0.010 1.000 1 2017 2017
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1801173
rs1801173
5 0.851 0.120 1 3682346 5 prime UTR variant C/T snv 0.20 0.18 0.010 1.000 1 2014 2014
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 2005 2005
dbSNP: rs2273953
rs2273953
5 0.851 0.120 1 3682336 5 prime UTR variant G/A;T snv 0.20; 3.3E-04 0.010 1.000 1 2011 2011
dbSNP: rs1035142
rs1035142
7 0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs10931936
rs10931936
6 0.827 0.120 2 201279205 intron variant T/C snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs115510139
rs115510139
6 0.827 0.120 2 237331726 intron variant A/T snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs11674595
rs11674595
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs13016963
rs13016963
5 0.851 0.080 2 201298088 intron variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs1595066
rs1595066
4 0.882 0.080 2 211377000 3 prime UTR variant C/T snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs16845990
rs16845990
4 0.882 0.080 2 211378286 3 prime UTR variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs17028375
rs17028375
1 1.000 0.080 2 64085008 downstream gene variant T/C snv 0.11 0.700 1.000 1 2011 2011