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: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12936511
rs12936511
5 0.925 0.080 17 45807036 synonymous variant C/T snv 3.1E-02 3.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs1800044
rs1800044
8 0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03 0.010 1.000 1 2009 2009
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs2020936
rs2020936
10 0.776 0.160 17 30223796 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs2070587
rs2070587
DAO
5 0.882 0.080 12 108883967 intron variant T/G snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs3213207
rs3213207
11 0.776 0.120 6 15627871 intron variant T/C snv 8.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs4792887
rs4792887
4 0.882 0.080 17 45799654 non coding transcript exon variant C/T snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs5558
rs5558
3 0.925 0.080 16 55699647 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs6354
rs6354
16 0.732 0.280 17 30222880 5 prime UTR variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs772659997
rs772659997
4 0.882 0.120 10 49619853 synonymous variant T/C snv 2.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs9722
rs9722
9 0.776 0.200 21 46599326 3 prime UTR variant G/A snv 0.16; 2.4E-05 0.21 0.010 1.000 1 2009 2009
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.020 0.500 2 2010 2010
dbSNP: rs1003880422
rs1003880422
TH
2 0.925 0.080 11 2166716 missense variant G/A;T snv 6.9E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs1082214
rs1082214
MIP
6 0.925 0.080 12 56452706 non coding transcript exon variant C/T snv 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs10848635
rs10848635
4 0.882 0.080 12 2207029 intron variant T/A;C snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs11904814
rs11904814
5 0.851 0.080 2 207562074 intron variant T/G snv 0.30 0.010 1.000 1 2010 2010
dbSNP: rs12229394
rs12229394
3 0.925 0.080 12 71999134 intron variant G/A snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs12256138
rs12256138
1 1.000 0.040 10 71336479 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs12912233
rs12912233
5 0.851 0.120 15 60974897 intron variant C/T snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs2072115
rs2072115
5 0.882 0.080 12 47751585 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs2291738
rs2291738
8 0.807 0.160 12 56421497 splice region variant T/C snv 0.43 0.39 0.010 1.000 1 2010 2010
dbSNP: rs2291739
rs2291739
6 0.925 0.080 12 56420869 missense variant G/A;C snv 0.49; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2619522
rs2619522
6 0.827 0.080 6 15653418 intron variant A/C snv 0.26 0.010 1.000 1 2010 2010