Source: ALL
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: rs771298943
rs771298943
CBS
3 0.882 0.160 21 43062311 missense variant C/A;T snv 0.800 1.000 8 2002 2014
dbSNP: rs886057100
rs886057100
CBS
1 1.000 0.160 21 43066321 missense variant G/A snv 8.0E-06 0.800 1.000 8 1999 2014
dbSNP: rs755952006
rs755952006
CBS
1 1.000 0.160 21 43066252 missense variant C/T snv 1.2E-05 9.4E-06 0.800 1.000 7 2004 2015
dbSNP: rs758236584
rs758236584
CBS
2 0.925 0.160 21 43063958 missense variant G/A snv 3.6E-05 0.800 1.000 7 1995 2012
dbSNP: rs149119723
rs149119723
CBS
1 1.000 0.160 21 43063943 missense variant G/A snv 2.8E-05 0.800 1.000 6 1997 2012
dbSNP: rs748695461
rs748695461
CBS
1 1.000 0.160 21 43072175 frameshift variant G/-;GG delins 0.700 1.000 4 1999 2015
dbSNP: rs786204466
rs786204466
CBS
1 1.000 0.160 21 43053970 frameshift variant C/- delins 0.700 1.000 3 2003 2011
dbSNP: rs794727835
rs794727835
CBS
2 0.925 0.160 21 43065500 inframe deletion GTGCCCGCAGCACGTCCA/- delins 1.2E-05 0.700 1.000 3 1999 2014
dbSNP: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.030 1.000 3 2007 2019
dbSNP: rs1057517373
rs1057517373
CBS
1 1.000 0.160 21 43062952 splice donor variant C/T snv 0.700 1.000 2 2002 2002
dbSNP: rs1555869934
rs1555869934
CBS
1 1.000 0.160 21 43053932 frameshift variant TG/- delins 0.700 1.000 2 2014 2014
dbSNP: rs763290176
rs763290176
CBS
2 0.925 0.160 21 43063899 splice donor variant C/T snv 8.1E-06 0.700 1.000 2 2004 2006
dbSNP: rs775351239
rs775351239
CBS
2 0.925 0.160 21 43065250 frameshift variant A/- del 4.0E-06 1.7E-05 0.700 1.000 2 2010 2011
dbSNP: rs786204679
rs786204679
CBS
1 1.000 0.160 21 43058833 splice donor variant C/T snv 0.700 1.000 2 1997 2014
dbSNP: rs1057516645
rs1057516645
CBS
1 1.000 0.160 21 43058871 stop gained T/A snv 0.700 1.000 1 2006 2006
dbSNP: rs1064793703
rs1064793703
CBS
3 0.925 0.160 21 43062344 missense variant GG/AA mnv 0.010 1.000 1 2019 2019
dbSNP: rs1347651454
rs1347651454
CBS
3 0.882 0.160 21 43065653 missense variant C/T snv 5.4E-06 0.700 1.000 1 2010 2010
dbSNP: rs1361324844
rs1361324844
CBS
3 0.882 0.160 21 43059228 frameshift variant G/- delins 4.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs1555871095
rs1555871095
CBS
1 1.000 0.160 21 43056810 frameshift variant C/- del 0.700 1.000 1 2002 2002
dbSNP: rs1555875292
rs1555875292
CBS
1 1.000 0.160 21 43066242 splice donor variant C/A snv 0.700 1.000 1 2012 2012
dbSNP: rs756467921
rs756467921
CBS
1 1.000 0.160 21 43058876 missense variant C/T snv 2.3E-05 0.700 1.000 1 2010 2010
dbSNP: rs757428597
rs757428597
CBS
2 0.925 0.160 21 43063992 splice acceptor variant C/A;G snv 8.3E-06 0.700 1.000 1 2003 2003
dbSNP: rs764160782
rs764160782
CBS
2 0.925 0.160 21 43065279 intron variant AAAGAGAG/- delins 1.4E-04; 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs779250698
rs779250698
CBS
1 1.000 0.160 21 43072166 frameshift variant C/- del 8.2E-06 0.700 1.000 1 2001 2001
dbSNP: rs863223432
rs863223432
CBS
1 1.000 0.160 21 43062381 stop gained C/T snv 4.0E-06 0.700 1.000 1 2012 2012