rs121964963

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a homocystinuria mutation

Make rs121964963(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43066260

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs121964963
dbSNP (classic)	rs121964963
ClinGen	rs121964963
ebi	rs121964963
HLI	rs121964963
Exac	rs121964963
Gnomad	rs121964963
Varsome	rs121964963
LitVar	rs121964963
Map	rs121964963
PheGenI	rs121964963
Biobank	rs121964963
1000 genomes	rs121964963
hgdp	rs121964963
ensembl	rs121964963
geneview	rs121964963
scholar	rs121964963
google	rs121964963
pharmgkb	rs121964963
gwascentral	rs121964963
openSNP	rs121964963
23andMe	rs121964963
SNPshot	rs121964963
SNPdbe	rs121964963
MSV3d	rs121964963
GWAS Ctlg	rs121964963

Max Magnitude

3

OMIM	613381
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121964963(T;T)
Alt	rs121964963(T;T)
Reference	Rs121964963(C;C)
Significance	Pathogenic
Disease	Homocystinuria
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria, pyridoxine-responsive
Reversed	1
HGVS	NC_000021.8:g.44486370G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000139.2,