rs121964968

Orientation

minus

Stabilized

minus

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

Make rs121964968(C;C)

Make rs121964968(C;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43053920

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs121964968
dbSNP (classic)	rs121964968
ClinGen	rs121964968
ebi	rs121964968
HLI	rs121964968
Exac	rs121964968
Gnomad	rs121964968
Varsome	rs121964968
LitVar	rs121964968
Map	rs121964968
PheGenI	rs121964968
Biobank	rs121964968
1000 genomes	rs121964968
hgdp	rs121964968
ensembl	rs121964968
geneview	rs121964968
scholar	rs121964968
google	rs121964968
pharmgkb	rs121964968
gwascentral	rs121964968
openSNP	rs121964968
23andMe	rs121964968
SNPshot	rs121964968
SNPdbe	rs121964968
MSV3d	rs121964968
GWAS Ctlg	rs121964968

GMAF

0.0004591

Max Magnitude

0

OMIM	613381
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121964968(C;C)
Alt	rs121964968(C;C)
Reference	Rs121964968(T;T)
Significance	Pathogenic
Disease	Homocystinuria
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria, pyridoxine-responsive
Reversed	1
HGVS	NC_000021.8:g.44474030A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000146.3,