rs763036586

Orientation

plus

Stabilized

plus

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

Make rs763036586(C;T)

Make rs763036586(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

43060450

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs763036586
dbSNP (classic)	rs763036586
ClinGen	rs763036586
ebi	rs763036586
HLI	rs763036586
Exac	rs763036586
Gnomad	rs763036586
Varsome	rs763036586
LitVar	rs763036586
Map	rs763036586
PheGenI	rs763036586
Biobank	rs763036586
1000 genomes	rs763036586
hgdp	rs763036586
ensembl	rs763036586
geneview	rs763036586
scholar	rs763036586
google	rs763036586
pharmgkb	rs763036586
gwascentral	rs763036586
openSNP	rs763036586
23andMe	rs763036586
SNPshot	rs763036586
SNPdbe	rs763036586
MSV3d	rs763036586
GWAS Ctlg	rs763036586

Max Magnitude

0

ClinVar
Risk	rs763036586(T;T)
Alt	rs763036586(T;T)
Reference	Rs763036586(C;C)
Significance	Pathogenic
Disease	Homocystinuria due to CBS deficiency not provided
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria due to CBS deficiency not provided
Reversed	0
HGVS	NC_000021.8:g.44480560C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169171.1, RCV000480748.1,