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: rs1235001018
rs1235001018
2 0.925 0.080 3 121729917 missense variant T/C snv 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs1864169
rs1864169
5 0.851 0.200 14 81203689 intron variant G/T snv 0.78 0.010 1.000 1 2007 2007
dbSNP: rs1452231640
rs1452231640
4 1.000 0.080 8 42339015 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 < 0.001 1 2008 2008
dbSNP: rs2854746
rs2854746
14 0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs746782366
rs746782366
CBS
2 0.925 0.120 21 43072117 missense variant C/G;T snv 8.1E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs756065494
rs756065494
MTR
2 0.925 0.120 1 236835605 missense variant A/G snv 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs758900778
rs758900778
2 0.925 0.080 1 45333489 missense variant G/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs766958673
rs766958673
CBS
4 0.851 0.120 21 43066293 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs79777494
rs79777494
3 0.882 0.120 1 45334495 missense variant G/A snv 1.1E-03 4.9E-04 0.010 1.000 1 2008 2008
dbSNP: rs10434
rs10434
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2009 2009
dbSNP: rs1047840
rs1047840
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2009 2009
dbSNP: rs12479919
rs12479919
2 0.925 0.080 20 5000094 intron variant C/T snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2009 2009
dbSNP: rs5277
rs5277
9 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs5278
rs5278
2 0.925 0.080 1 186676537 synonymous variant A/G snv 4.8E-03 1.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs5279
rs5279
2 0.925 0.080 1 186675946 missense variant A/C;G;T snv 4.0E-06; 4.5E-03; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs6672420
rs6672420
6 0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50 0.010 < 0.001 1 2009 2009
dbSNP: rs689470
rs689470
9 0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs753535070
rs753535070
5 0.851 0.120 1 155187350 missense variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs758272654
rs758272654
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs869736
rs869736
3 0.925 0.080 11 67437991 3 prime UTR variant C/A snv 0.53 0.010 1.000 1 2009 2009
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2010 2010