Have questions? Visit https://www.reddit.com/r/SNPedia

rs121964964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964964(C;T)
Make rs121964964(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position43066353
GeneCBS
is asnp
is mentioned by
dbSNPrs121964964
ebirs121964964
HLIrs121964964
Exacrs121964964
Varsomers121964964
Maprs121964964
PheGenIrs121964964
hapmaprs121964964
1000 genomesrs121964964
hgdprs121964964
ensemblrs121964964
gopubmedrs121964964
geneviewrs121964964
scholarrs121964964
googlers121964964
pharmgkbrs121964964
gwascentralrs121964964
openSNPrs121964964
23andMers121964964
23andMe allrs121964964
SNP Nexus

SNPshotrs121964964
SNPdbers121964964
MSV3drs121964964
GWAS Ctlgrs121964964
Max Magnitude0
OMIM613381
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121964964(G,T;G,T)
Alt rs121964964(G,T;G,T)
Reference rs121964964(C;C)
Significance Pathogenic
Disease Homocystinuria not provided
Variation info
Gene CBS
CLNDBN Homocystinuria, pyridoxine-responsive not provided
Reversed 1
HGVS NC_000021.8:g.44486463G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000140.3, RCV000200823.1,