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: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1051226
rs1051226
1 1 154157607 3 prime UTR variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.060 0.833 6 2003 2018
dbSNP: rs1052536
rs1052536
10 0.776 0.200 17 35004556 3 prime UTR variant C/T snv 0.42 0.36 0.010 1.000 1 2018 2018
dbSNP: rs10786691
rs10786691
3 0.925 0.160 10 102604895 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10827337
rs10827337
1 10 34202922 intron variant G/A snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs10925260
rs10925260
MTR
1 1 236884786 intron variant A/C snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs11247593
rs11247593
1 1 26725589 intron variant G/A snv 0.30 0.010 1.000 1 2014 2014
dbSNP: rs1141321
rs1141321
1 6 49444720 missense variant C/G;T snv 0.32 0.010 < 0.001 1 2003 2003
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs1169089134
rs1169089134
9 0.790 0.320 11 49206785 missense variant C/G;T snv 0.020 1.000 2 2004 2010
dbSNP: rs1203798584
rs1203798584
1 11 72221671 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1206846668
rs1206846668
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.030 1.000 3 2003 2010
dbSNP: rs1212671656
rs1212671656
1 10 133297981 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs12132032
rs12132032
2 1.000 0.080 1 84100906 intron variant A/G snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.882 68 1997 2019
dbSNP: rs121918219
rs121918219
2 1.000 1 115682372 missense variant G/A snv 2.4E-05 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs12218196
rs12218196
1 10 34196864 intron variant T/C snv 2.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2001 2001
dbSNP: rs1256146
rs1256146
1 14 64453947 intron variant G/A snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs1257122540
rs1257122540
1 4 109539620 missense variant C/G snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1268970749
rs1268970749
1 11 82838473 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1314974864
rs1314974864
1 1 160419339 missense variant G/A snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1339039642
rs1339039642
2 6 150905744 missense variant C/T snv 1.4E-05 0.010 1.000 1 2002 2002