rs121964970

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121964970(A;A)

Make rs121964970(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43065645

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs121964970
dbSNP (classic)	rs121964970
ClinGen	rs121964970
ebi	rs121964970
HLI	rs121964970
Exac	rs121964970
Gnomad	rs121964970
Varsome	rs121964970
LitVar	rs121964970
Map	rs121964970
PheGenI	rs121964970
Biobank	rs121964970
1000 genomes	rs121964970
hgdp	rs121964970
ensembl	rs121964970
geneview	rs121964970
scholar	rs121964970
google	rs121964970
pharmgkb	rs121964970
gwascentral	rs121964970
openSNP	rs121964970
23andMe	rs121964970
SNPshot	rs121964970
SNPdbe	rs121964970
MSV3d	rs121964970
GWAS Ctlg	rs121964970

Max Magnitude

0

OMIM	613381
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121964970(A;A)
Alt	rs121964970(A;A)
Reference	Rs121964970(G;G)
Significance	Pathogenic
Disease	Homocystinuria not provided Thoracic aortic aneurysm and aortic dissection not specified Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria, pyridoxine-responsive not provided Thoracic aortic aneurysm and aortic dissection not specified Homocystinuria due to CBS deficiency
Reversed	1
HGVS	NC_000021.8:g.44485755C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000150.2, RCV000179250.3, RCV000250042.1, RCV000259164.1, RCV000458159.1,