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rs121964973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964973(C;T)
Make rs121964973(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position43065481
GeneCBS
is asnp
is mentioned by
dbSNPrs121964973
ebirs121964973
HLIrs121964973
Exacrs121964973
Varsomers121964973
Maprs121964973
PheGenIrs121964973
hapmaprs121964973
1000 genomesrs121964973
hgdprs121964973
ensemblrs121964973
gopubmedrs121964973
geneviewrs121964973
scholarrs121964973
googlers121964973
pharmgkbrs121964973
gwascentralrs121964973
openSNPrs121964973
23andMers121964973
23andMe allrs121964973
SNP Nexus

SNPshotrs121964973
SNPdbers121964973
MSV3drs121964973
GWAS Ctlgrs121964973
Max Magnitude0
OMIM613381
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121964973(T;T)
Alt rs121964973(T;T)
Reference rs121964973(C;C)
Significance Pathogenic
Disease Homocystinuria not provided
Variation info
Gene CBS
CLNDBN Homocystinuria, pyridoxine-nonresponsive not provided
Reversed 1
HGVS NC_000021.8:g.44485591G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000155.2, RCV000195441.2,