Gene: CBS ×
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: rs1801181
rs1801181
CBS
2 0.925 0.160 21 43060506 synonymous variant G/A snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs234706
rs234706
CBS
2 0.925 0.160 21 43065240 synonymous variant G/A snv 0.27 0.010 1.000 1 2013 2013
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 2007 2007