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: rs56287471
rs56287471
1 1.000 0.120 5 159323135 missense variant C/T snv 3.8E-04 1.5E-03 0.010 1.000 1 2007 2007
dbSNP: rs61733010
rs61733010
2 0.925 0.120 1 45561805 missense variant C/G;T snv 4.0E-06; 4.3E-04 1.9E-03 0.010 1.000 1 2007 2007
dbSNP: rs6948
rs6948
3 1.000 0.120 4 184627976 3 prime UTR variant G/T snv 0.48 0.010 1.000 1 2007 2007
dbSNP: rs754651345
rs754651345
1 1.000 0.120 5 159326751 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs758837678
rs758837678
2 0.925 0.120 8 90001503 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs4648022
rs4648022
1 1.000 0.120 4 102575280 intron variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.040 0.750 4 2009 2015
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.040 0.750 4 2009 2017
dbSNP: rs12211228
rs12211228
2 1.000 0.120 6 408833 3 prime UTR variant G/C snv 0.11 0.020 1.000 2 2009 2009
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2009 2013
dbSNP: rs1801157
rs1801157
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.020 1.000 2 2009 2018
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2009 2016
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.020 0.500 2 2009 2016
dbSNP: rs10008492
rs10008492
2 1.000 0.120 4 38764099 intergenic variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1041163
rs1041163
3 0.882 0.160 1 100718269 upstream gene variant T/C snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs11038689
rs11038689
3 0.882 0.160 11 45852713 intron variant A/G snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs12203592
rs12203592
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.010 1.000 1 2009 2009
dbSNP: rs1270942
rs1270942
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs13706
rs13706
11 0.776 0.200 17 40300899 missense variant G/A;C snv 0.15; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1401417
rs1401417
3 0.882 0.160 11 45858559 intron variant C/G snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs16994592
rs16994592
1 1.000 0.120 19 6586487 intron variant T/C snv 9.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs1785882
rs1785882
1 1.000 0.120 11 105052348 intron variant A/T snv 0.45 0.010 1.000 1 2009 2009