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rs121964971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964971(C;T)
Make rs121964971(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position43058215
GeneCBS
is asnp
is mentioned by
dbSNPrs121964971
ebirs121964971
HLIrs121964971
Exacrs121964971
Varsomers121964971
Maprs121964971
PheGenIrs121964971
hapmaprs121964971
1000 genomesrs121964971
hgdprs121964971
ensemblrs121964971
gopubmedrs121964971
geneviewrs121964971
scholarrs121964971
googlers121964971
pharmgkbrs121964971
gwascentralrs121964971
openSNPrs121964971
23andMers121964971
23andMe allrs121964971
SNP Nexus

SNPshotrs121964971
SNPdbers121964971
MSV3drs121964971
GWAS Ctlgrs121964971
Max Magnitude0
OMIM613381
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121964971(T;T)
Alt rs121964971(T;T)
Reference rs121964971(C;C)
Significance Pathogenic
Disease HYPERHOMOCYSTEINEMIA
Variation info
Gene CBS
CLNDBN HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Reversed 1
HGVS NC_000021.8:g.44478325G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000153.3,