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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2004 2007
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2000 2003
dbSNP: rs1036980234
rs1036980234
6 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2002 2002
dbSNP: rs1135401743
rs1135401743
11 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
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: 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: rs2851391
rs2851391
CBS
2 1.000 0.080 21 43067294 intron variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs357564
rs357564
6 0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06 0.010 1.000 1 2013 2013
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: rs746937239
rs746937239
1 1.000 0.080 1 11801165 synonymous variant C/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs756946661
rs756946661
1 1.000 0.080 16 24908983 missense variant C/T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs766063498
rs766063498
2 0.925 0.080 6 150905747 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
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 2000 2000
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs939883
rs939883
1 1.000 0.080 3 196238244 3 prime UTR variant A/G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs986808879
rs986808879
1 1.000 0.080 16 24891045 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs1555471098
rs1555471098
6 0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 0.700 0
dbSNP: rs431905509
rs431905509
8 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.938 16 1995 2014
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: 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: rs749437638
rs749437638
14 0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs375752214
rs375752214
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2013 2013