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rs121964967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a homocystinuria mutation
Make rs121964967(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43059299
GeneCBS
is asnp
is mentioned by
dbSNPrs121964967
dbSNP (classic)rs121964967
ClinGenrs121964967
ebirs121964967
HLIrs121964967
Exacrs121964967
Gnomadrs121964967
Varsomers121964967
LitVarrs121964967
Maprs121964967
PheGenIrs121964967
Biobankrs121964967
1000 genomesrs121964967
hgdprs121964967
ensemblrs121964967
geneviewrs121964967
scholarrs121964967
googlers121964967
pharmgkbrs121964967
gwascentralrs121964967
openSNPrs121964967
23andMers121964967
SNPshotrs121964967
SNPdbers121964967
MSV3drs121964967
GWAS Ctlgrs121964967
Max Magnitude3
OMIM613381
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121964967(G;G)
Alt rs121964967(G;G)
Reference Rs121964967(A;A)
Significance Pathogenic
Disease Homocystinuria
Variation info
Gene CBSL CBS
CLNDBN Homocystinuria, pyridoxine-responsive
Reversed 1
HGVS NC_000021.8:g.44479409T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000145.2,