rs398123151

Orientation

minus

Stabilized

minus

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

Make rs398123151(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43062344

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs398123151
dbSNP (classic)	rs398123151
ClinGen	rs398123151
ebi	rs398123151
HLI	rs398123151
Exac	rs398123151
Gnomad	rs398123151
Varsome	rs398123151
LitVar	rs398123151
Map	rs398123151
PheGenI	rs398123151
Biobank	rs398123151
1000 genomes	rs398123151
hgdp	rs398123151
ensembl	rs398123151
geneview	rs398123151
scholar	rs398123151
google	rs398123151
pharmgkb	rs398123151
gwascentral	rs398123151
openSNP	rs398123151
23andMe	rs398123151
SNPshot	rs398123151
SNPdbe	rs398123151
MSV3d	rs398123151
GWAS Ctlg	rs398123151

Max Magnitude

3

ClinVar
Risk	rs398123151(T;T)
Alt	rs398123151(T;T)
Reference	Rs398123151(C;C)
Significance	Pathogenic
Disease	not provided Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	not provided Homocystinuria due to CBS deficiency
Reversed	1
HGVS	NC_000021.8:g.44482454G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078105.6, RCV000169310.2,