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 14 1999 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 1.000 7 2004 2019
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1206736425
rs1206736425
2 1 161626229 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs142322800
rs142322800
1 1 161548502 missense variant T/C snv 1.5E-04 5.6E-05 0.010 1.000 1 2018 2018
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 2012 2012
dbSNP: rs368705607
rs368705607
7 0.882 0.120 1 226225766 missense variant T/C;G snv 2.8E-05; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs397514606
rs397514606
14 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs121912678
rs121912678
8 0.851 0.080 2 157774114 missense variant C/G;T snv 0.020 1.000 2 2009 2020
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12329305
rs12329305
1 2 19353152 synonymous variant C/A;T snv 1.6E-04; 5.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1234344050
rs1234344050
2 2 188984825 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs387906617
rs387906617
2 2 207567506 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs4954218
rs4954218
5 0.925 0.080 2 135045855 intron variant G/T snv 0.83 0.010 1.000 1 2012 2012
dbSNP: rs4988235
rs4988235
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs57865060
rs57865060
6 0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03 0.010 1.000 1 2018 2018
dbSNP: rs587777570
rs587777570
4 1.000 2 148947018 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs79204362
rs79204362
10 0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 0.010 1.000 1 2018 2018
dbSNP: rs1057517786
rs1057517786
3 0.925 0.400 3 167704889 stop gained G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121909173
rs121909173
5 0.851 0.240 3 57199901 missense variant C/G snv 2.8E-05 1.4E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs504849
rs504849
1 3 55488911 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs524153
rs524153
1 3 55491957 upstream gene variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs7650466
rs7650466
7 0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs28933068
rs28933068
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.020 1.000 2 2007 2017