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rs121964968

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964968(C;C)
Make rs121964968(C;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position43053920
GeneCBS
is asnp
is mentioned by
dbSNPrs121964968
ebirs121964968
HLIrs121964968
Exacrs121964968
Varsomers121964968
Maprs121964968
PheGenIrs121964968
hapmaprs121964968
1000 genomesrs121964968
hgdprs121964968
ensemblrs121964968
gopubmedrs121964968
geneviewrs121964968
scholarrs121964968
googlers121964968
pharmgkbrs121964968
gwascentralrs121964968
openSNPrs121964968
23andMers121964968
23andMe allrs121964968
SNP Nexus

SNPshotrs121964968
SNPdbers121964968
MSV3drs121964968
GWAS Ctlgrs121964968
GMAF0.0004591
Max Magnitude0
OMIM613381
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121964968(C;C)
Alt rs121964968(C;C)
Reference rs121964968(T;T)
Significance Pathogenic
Disease Homocystinuria
Variation info
Gene CBS
CLNDBN Homocystinuria, pyridoxine-responsive
Reversed 1
HGVS NC_000021.8:g.44474030A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000146.2,