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: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 < 0.001 1 1996 1996
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 < 0.001 1 2010 2010