rs121964964

Orientation

minus

Stabilized

minus

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

Make rs121964964(C;T)

Make rs121964964(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43066353

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs121964964
dbSNP (classic)	rs121964964
ClinGen	rs121964964
ebi	rs121964964
HLI	rs121964964
Exac	rs121964964
Gnomad	rs121964964
Varsome	rs121964964
LitVar	rs121964964
Map	rs121964964
PheGenI	rs121964964
Biobank	rs121964964
1000 genomes	rs121964964
hgdp	rs121964964
ensembl	rs121964964
geneview	rs121964964
scholar	rs121964964
google	rs121964964
pharmgkb	rs121964964
gwascentral	rs121964964
openSNP	rs121964964
23andMe	rs121964964
SNPshot	rs121964964
SNPdbe	rs121964964
MSV3d	rs121964964
GWAS Ctlg	rs121964964

Max Magnitude

0

OMIM	613381
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121964964(G;G) rs121964964(T;T)
Alt	rs121964964(G;G) rs121964964(T;T)
Reference	Rs121964964(C;C)
Significance	Pathogenic
Disease	Homocystinuria not provided Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria, pyridoxine-responsive not provided Homocystinuria due to CBS deficiency
Reversed	1
HGVS	NC_000021.8:g.44486463G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000140.3, RCV000200823.2, RCV000490533.1,