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: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.850 0.974 39 1984 2019
dbSNP: rs786204757
rs786204757
CBS
2 0.925 0.160 21 43068523 missense variant A/G snv 0.800 1.000 28 1994 2014
dbSNP: rs121964968
rs121964968
CBS
1 1.000 0.160 21 43053920 missense variant A/G snv 0.700 1.000 21 1994 2014
dbSNP: rs1555872506
rs1555872506
CBS
1 1.000 0.160 21 43058891 missense variant G/T snv 0.700 1.000 21 1994 2014
dbSNP: rs1555874803
rs1555874803
CBS
1 1.000 0.160 21 43065256 missense variant T/C snv 0.700 1.000 21 1994 2014
dbSNP: rs1555875010
rs1555875010
CBS
1 1.000 0.160 21 43065514 missense variant A/G snv 0.700 1.000 21 1994 2014
dbSNP: rs1555875351
rs1555875351
CBS
1 1.000 0.160 21 43066301 missense variant C/G snv 0.700 1.000 21 1994 2014
dbSNP: rs28934892
rs28934892
CBS
1 1.000 0.160 21 43058927 missense variant G/A snv 0.710 1.000 21 1994 2014
dbSNP: rs121964967
rs121964967
CBS
2 0.925 0.160 21 43059299 missense variant T/C snv 0.700 1.000 20 1994 2014
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: 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: 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: 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: 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: rs1057516256
rs1057516256
CBS
1 1.000 0.160 21 43068508 splice donor variant C/T snv 0.700 0
dbSNP: rs1057516552
rs1057516552
CBS
1 1.000 0.160 21 43072158 frameshift variant CCCCACTTCTGCCTGGGGG/- delins 0.700 0
dbSNP: rs1057516895
rs1057516895
CBS
1 1.000 0.160 21 43056888 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1057517435
rs1057517435
CBS
1 1.000 0.160 21 43065231 frameshift variant GG/CACC delins 0.700 0
dbSNP: rs1192581453
rs1192581453
CBS
1 1.000 0.160 21 43060523 missense variant C/G;T snv 0.700 0