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rs121964962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964962(A;A)
Make rs121964962(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position43062988
GeneCBS
is asnp
is mentioned by
dbSNPrs121964962
ebirs121964962
HLIrs121964962
Exacrs121964962
Varsomers121964962
Maprs121964962
PheGenIrs121964962
hapmaprs121964962
1000 genomesrs121964962
hgdprs121964962
ensemblrs121964962
gopubmedrs121964962
geneviewrs121964962
scholarrs121964962
googlers121964962
pharmgkbrs121964962
gwascentralrs121964962
openSNPrs121964962
23andMers121964962
23andMe allrs121964962
SNP Nexus

SNPshotrs121964962
SNPdbers121964962
MSV3drs121964962
GWAS Ctlgrs121964962
Max Magnitude0
OMIM613381
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121964962(A;A)
Alt rs121964962(A;A)
Reference rs121964962(G;G)
Significance Pathogenic
Disease Homocystinuria HYPERHOMOCYSTEINEMIA not provided Homocystinuria due to CBS deficiency
Variation info
Gene CBS
CLNDBN Homocystinuria, pyridoxine-nonresponsive HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED not provided Homocystinuria due to CBS deficiency
Reversed 1
HGVS NC_000021.8:g.44483098C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000137.2, RCV000000138.2, RCV000078112.5, RCV000173641.1,