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 0.720 1.000 2 1995 2007
dbSNP: rs121964963
rs121964963
CBS
2 0.925 0.160 21 43066260 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs121964964
rs121964964
CBS
4 0.851 0.160 21 43066353 missense variant G/A;C snv 2.1E-04 0.700 0
dbSNP: rs121964965
rs121964965
CBS
2 0.925 0.160 21 43066279 missense variant C/T snv 2.8E-05 0.700 0
dbSNP: rs121964966
rs121964966
CBS
2 0.925 0.160 21 43066264 missense variant C/G;T snv 6.4E-05; 2.8E-05 0.700 0
dbSNP: rs121964967
rs121964967
CBS
2 0.925 0.160 21 43059299 missense variant T/C snv 0.700 0
dbSNP: rs121964969
rs121964969
CBS
3 0.882 0.160 21 43063931 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs121964970
rs121964970
CBS
2 0.925 0.160 21 43065645 missense variant C/A;T snv 5.4E-06; 1.1E-05 0.700 0
dbSNP: rs28934891
rs28934891
CBS
4 0.851 0.160 21 43058862 missense variant C/T snv 3.3E-04 0.700 0
dbSNP: rs375846341
rs375846341
CBS
3 0.882 0.160 21 43058970 splice acceptor variant T/G snv 7.9E-05 0.700 0
dbSNP: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.010 1.000 1 1995 1995