rs121964973

Orientation

minus

Stabilized

minus

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

Make rs121964973(C;T)

Make rs121964973(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43065481

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs121964973
dbSNP (classic)	rs121964973
ClinGen	rs121964973
ebi	rs121964973
HLI	rs121964973
Exac	rs121964973
Gnomad	rs121964973
Varsome	rs121964973
LitVar	rs121964973
Map	rs121964973
PheGenI	rs121964973
Biobank	rs121964973
1000 genomes	rs121964973
hgdp	rs121964973
ensembl	rs121964973
geneview	rs121964973
scholar	rs121964973
google	rs121964973
pharmgkb	rs121964973
gwascentral	rs121964973
openSNP	rs121964973
23andMe	rs121964973
SNPshot	rs121964973
SNPdbe	rs121964973
MSV3d	rs121964973
GWAS Ctlg	rs121964973

Max Magnitude

0

OMIM	613381
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121964973(T;T)
Alt	rs121964973(T;T)
Reference	Rs121964973(C;C)
Significance	Pathogenic
Disease	Homocystinuria not provided
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria, pyridoxine-nonresponsive not provided
Reversed	1
HGVS	NC_000021.8:g.44485591G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000155.2, RCV000195441.3,