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: rs234709
rs234709
CBS
7 0.827 0.200 21 43066854 intron variant C/T snv 0.800 1.000 1 2013 2013
dbSNP: rs2851391
rs2851391
CBS
2 1.000 0.080 21 43067294 intron variant T/C snv 0.800 1.000 1 2013 2013
dbSNP: rs6586282
rs6586282
CBS
5 0.882 0.080 21 43058387 intron variant C/T snv 0.800 1.000 1 2009 2009
dbSNP: rs234714
rs234714
CBS
1 21 43067923 non coding transcript exon variant T/C snv 0.700 1.000 1 2014 2014