rs372010465

Orientation

plus

Stabilized

plus

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

Make rs372010465(C;T)

Make rs372010465(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

43060475

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs372010465
dbSNP (classic)	rs372010465
ClinGen	rs372010465
ebi	rs372010465
HLI	rs372010465
Exac	rs372010465
Gnomad	rs372010465
Varsome	rs372010465
LitVar	rs372010465
Map	rs372010465
PheGenI	rs372010465
Biobank	rs372010465
1000 genomes	rs372010465
hgdp	rs372010465
ensembl	rs372010465
geneview	rs372010465
scholar	rs372010465
google	rs372010465
pharmgkb	rs372010465
gwascentral	rs372010465
openSNP	rs372010465
23andMe	rs372010465
SNPshot	rs372010465
SNPdbe	rs372010465
MSV3d	rs372010465
GWAS Ctlg	rs372010465

Max Magnitude

0

ClinVar
Risk	rs372010465(T;T)
Alt	rs372010465(T;T)
Reference	Rs372010465(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	0
HGVS	NC_000021.8:g.44480585C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000196393.1, RCV000410135.1,