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: rs4816
rs4816
2 1.000 0.080 6 149793609 missense variant G/A snv 0.46 0.53 0.020 1.000 2 2006 2012
dbSNP: rs1001761
rs1001761
2 1.000 0.080 18 662103 intron variant G/A snv 0.50 0.55 0.010 1.000 1 2009 2009
dbSNP: rs10135525
rs10135525
1 1.000 0.080 14 36581342 missense variant C/T snv 9.1E-04 4.2E-03 0.010 1.000 1 2013 2013
dbSNP: rs11227332
rs11227332
1 1.000 0.080 11 65856268 5 prime UTR variant A/G snv 0.15 0.14 0.010 1.000 1 2007 2007
dbSNP: rs11569688
rs11569688
1 1.000 0.080 11 114312721 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2008 2008
dbSNP: rs1369410594
rs1369410594
1 1.000 0.080 6 43143543 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs147495923
rs147495923
1 1.000 0.080 16 24906679 missense variant A/G snv 1.2E-03 7.9E-04 0.010 1.000 1 2004 2004
dbSNP: rs1479488159
rs1479488159
1 1.000 0.080 19 18435586 synonymous variant G/A snv 4.1E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs16863657
rs16863657
1 1.000 0.080 2 222299799 intron variant A/G snv 0.16 0.010 1.000 1 2007 2007
dbSNP: rs2236224
rs2236224
1 1.000 0.080 14 64442433 intron variant G/A snv 0.40 0.33 0.010 1.000 1 2009 2009
dbSNP: rs2303697
rs2303697
1 1.000 0.080 19 18435868 synonymous variant T/C snv 0.38 0.47 0.010 1.000 1 2004 2004
dbSNP: rs234713
rs234713
CBS
1 1.000 0.080 21 43067781 non coding transcript exon variant G/A snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs2797840
rs2797840
2 1.000 0.080 9 133671511 intron variant G/A;C snv 0.53; 1.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs2847149
rs2847149
1 1.000 0.080 18 666371 intron variant G/A snv 0.55 0.010 1.000 1 2009 2009
dbSNP: rs2851391
rs2851391
CBS
2 1.000 0.080 21 43067294 intron variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs34181110
rs34181110
3 0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03 0.010 1.000 1 1998 1998
dbSNP: rs3783903
rs3783903
1 1.000 0.080 14 93015978 intron variant T/C snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs4552
rs4552
1 1.000 0.080 6 149811183 3 prime UTR variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4621
rs4621
1 1.000 0.080 11 65856048 synonymous variant G/A snv 0.57 0.52 0.010 1.000 1 2007 2007
dbSNP: rs4646337
rs4646337
1 1.000 0.080 11 114312587 3 prime UTR variant A/G snv 0.21 0.010 1.000 1 2008 2008
dbSNP: rs502396
rs502396
2 1.000 0.080 18 659236 intron variant C/T snv 0.46 0.010 1.000 1 2009 2009
dbSNP: rs61755040
rs61755040
1 1.000 0.080 14 36581437 missense variant C/G snv 8.7E-03 9.2E-03 0.010 1.000 1 2013 2013
dbSNP: rs626105
rs626105
1 1.000 0.080 5 79074078 intron variant A/G snv 0.72 0.010 1.000 1 2005 2005
dbSNP: rs667555
rs667555
1 1.000 0.080 11 65857091 splice donor variant A/C snv 0.54 0.010 1.000 1 2007 2007
dbSNP: rs702465
rs702465
1 1.000 0.080 2 74142024 intron variant A/G;T snv 0.63 0.010 1.000 1 2009 2009