rs121964972

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

21

Position

43060528

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs121964972
dbSNP (classic)	rs121964972
ClinGen	rs121964972
ebi	rs121964972
HLI	rs121964972
Exac	rs121964972
Gnomad	rs121964972
Varsome	rs121964972
LitVar	rs121964972
Map	rs121964972
PheGenI	rs121964972
Biobank	rs121964972
1000 genomes	rs121964972
hgdp	rs121964972
ensembl	rs121964972
geneview	rs121964972
scholar	rs121964972
google	rs121964972
pharmgkb	rs121964972
gwascentral	rs121964972
openSNP	rs121964972
23andMe	rs121964972
SNPshot	rs121964972
SNPdbe	rs121964972
MSV3d	rs121964972
GWAS Ctlg	rs121964972

Max Magnitude

4.5

307S (common in Irish populations) is associated with a more severe form of Homocystinuria and is unresponsive to pyridoxine (vitamin B6) treatment.

OMIM	613381
Desc
Variant	0015
Related	also

ClinVar
Risk	Rs121964972(T;T)
Alt	Rs121964972(T;T)
Reference	Rs121964972(C;C)
Significance	Other
Disease	Homocystinuria not provided Homocystinuria due to CBS deficiency Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria, pyridoxine-nonresponsive not provided Homocystinuria due to CBS deficiency Thoracic aortic aneurysm and aortic dissection
Reversed	1
HGVS	NC_000021.8:g.44480638G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000154.2, RCV000078106.5, RCV000169466.2, RCV000249963.1,