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rs121964967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121964967(A;G)
Make rs121964967(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43059299
GeneCBS
is asnp
is mentioned by
dbSNPrs121964967
ebirs121964967
HLIrs121964967
Exacrs121964967
Varsomers121964967
Maprs121964967
PheGenIrs121964967
hapmaprs121964967
1000 genomesrs121964967
hgdprs121964967
ensemblrs121964967
gopubmedrs121964967
geneviewrs121964967
scholarrs121964967
googlers121964967
pharmgkbrs121964967
gwascentralrs121964967
openSNPrs121964967
23andMers121964967
23andMe allrs121964967
SNP Nexus

SNPshotrs121964967
SNPdbers121964967
MSV3drs121964967
GWAS Ctlgrs121964967
Max Magnitude0
OMIM613381
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121964967(G;G)
Alt rs121964967(G;G)
Reference rs121964967(A;A)
Significance Pathogenic
Disease Homocystinuria
Variation info
Gene CBS
CLNDBN Homocystinuria, pyridoxine-responsive
Reversed 1
HGVS NC_000021.8:g.44479409T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000145.2,