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rs121964963

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964963(C;T)
Make rs121964963(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position43066260
GeneCBS
is asnp
is mentioned by
dbSNPrs121964963
ebirs121964963
HLIrs121964963
Exacrs121964963
Varsomers121964963
Maprs121964963
PheGenIrs121964963
hapmaprs121964963
1000 genomesrs121964963
hgdprs121964963
ensemblrs121964963
gopubmedrs121964963
geneviewrs121964963
scholarrs121964963
googlers121964963
pharmgkbrs121964963
gwascentralrs121964963
openSNPrs121964963
23andMers121964963
23andMe allrs121964963
SNP Nexus

SNPshotrs121964963
SNPdbers121964963
MSV3drs121964963
GWAS Ctlgrs121964963
Max Magnitude0
OMIM613381
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121964963(T;T)
Alt rs121964963(T;T)
Reference rs121964963(C;C)
Significance Pathogenic
Disease Homocystinuria
Variation info
Gene CBS
CLNDBN Homocystinuria, pyridoxine-responsive
Reversed 1
HGVS NC_000021.8:g.44486370G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000139.2,