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 0.700 1.000 18 1991 2014
dbSNP: rs28934891
rs28934891
CBS
4 0.851 0.160 21 43058862 missense variant C/T snv 3.3E-04 0.700 1.000 11 1996 2014
dbSNP: rs1347651454
rs1347651454
CBS
3 0.882 0.160 21 43065653 missense variant C/T snv 5.4E-06 0.700 1.000 10 1995 2012
dbSNP: rs121964973
rs121964973
CBS
4 0.851 0.160 21 43065481 missense variant G/A;T snv 6.0E-05 0.700 1.000 9 1999 2015
dbSNP: rs121964972
rs121964972
CBS
5 0.851 0.160 21 43060528 missense variant G/A snv 2.9E-05 0.700 1.000 8 1997 2014
dbSNP: rs148865119
rs148865119
CBS
2 0.925 0.160 21 43072048 missense variant G/A;C snv 1.5E-04; 4.0E-06 0.700 1.000 8 1998 2015
dbSNP: rs121964962
rs121964962
CBS
5 0.827 0.200 21 43062988 missense variant C/T snv 1.6E-04 0.700 1.000 7 1993 2013
dbSNP: rs121964964
rs121964964
CBS
4 0.851 0.160 21 43066353 missense variant G/A;C snv 2.1E-04 0.700 1.000 6 1995 2012
dbSNP: rs398123151
rs398123151
CBS
4 0.882 0.160 21 43062344 missense variant G/A snv 2.0E-05 0.700 1.000 6 1999 2015
dbSNP: rs771298943
rs771298943
CBS
3 0.882 0.160 21 43062311 missense variant C/A;T snv 0.700 1.000 6 2002 2014
dbSNP: rs760417941
rs760417941
CBS
2 0.925 0.160 21 43062343 missense variant C/A;T snv 1.2E-05 0.700 1.000 5 1998 2015
dbSNP: rs779270933
rs779270933
CBS
2 0.925 0.160 21 43063003 missense variant C/T snv 4.0E-06 0.700 1.000 5 1999 2018
dbSNP: rs781444670
rs781444670
CBS
2 0.925 0.160 21 43066320 missense variant C/T snv 8.0E-06 0.700 1.000 5 1994 2012
dbSNP: rs786204757
rs786204757
CBS
2 0.925 0.160 21 43068523 missense variant A/G snv 0.700 1.000 5 1998 2012
dbSNP: rs372010465
rs372010465
CBS
2 0.925 0.160 21 43060475 missense variant C/G;T snv 8.1E-06 0.700 1.000 4 1999 2012
dbSNP: rs763290176
rs763290176
CBS
2 0.925 0.160 21 43063899 splice donor variant C/T snv 8.1E-06 0.700 1.000 4 1999 2018
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 3 1999 2003
dbSNP: rs1568932835
rs1568932835
CBS
1 1.000 21 43065523 splice acceptor variant T/C snv 0.700 1.000 2 1999 2002
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 2 1997 2012
dbSNP: rs778220779
rs778220779
CBS
3 0.882 0.160 21 43066369 missense variant A/G snv 1.6E-05 2.0E-05 0.700 1.000 2 2002 2012
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: rs775351239
rs775351239
CBS
2 0.925 0.160 21 43065250 frameshift variant A/- del 4.0E-06 1.7E-05 0.700 1.000 1 2011 2011
dbSNP: rs766453711
rs766453711
CBS
2 0.925 0.160 21 43063990 splice acceptor variant C/- delins 4.1E-06 0.700 0
dbSNP: rs794727835
rs794727835
CBS
2 0.925 0.160 21 43065500 inframe deletion GTGCCCGCAGCACGTCCA/- delins 1.2E-05 0.700 0