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rs121964972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier for homocystinuria which is unresponsive to vitamin B6
(T;T) 4.5 homocystinuria which is unresponsive to vitamin B6
ReferenceGRCh38 38.1/141
Chromosome21
Position43060528
GeneCBS
is asnp
is mentioned by
dbSNPrs121964972
ebirs121964972
HLIrs121964972
Exacrs121964972
Varsomers121964972
Maprs121964972
PheGenIrs121964972
hapmaprs121964972
1000 genomesrs121964972
hgdprs121964972
ensemblrs121964972
gopubmedrs121964972
geneviewrs121964972
scholarrs121964972
googlers121964972
pharmgkbrs121964972
gwascentralrs121964972
openSNPrs121964972
23andMers121964972
23andMe allrs121964972
SNP Nexus

SNPshotrs121964972
SNPdbers121964972
MSV3drs121964972
GWAS Ctlgrs121964972
Max Magnitude4.5
307S (common in Irish populations) is associated with a more severe form of Homocystinuria and is unresponsive to pyridoxine (vitamin B6) treatment.
OMIM613381
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121964972(T;T)
Alt rs121964972(T;T)
Reference rs121964972(C;C)
Significance Other
Disease Homocystinuria not provided Homocystinuria due to CBS deficiency
Variation info
Gene CBS
CLNDBN Homocystinuria, pyridoxine-nonresponsive not provided Homocystinuria due to CBS deficiency
Reversed 1
HGVS NC_000021.8:g.44480638G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000154.2, RCV000078106.4, RCV000169466.2,