rs781444670

Orientation

plus

Stabilized

plus

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

Make rs781444670(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

43066320

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs781444670
dbSNP (classic)	rs781444670
ClinGen	rs781444670
ebi	rs781444670
HLI	rs781444670
Exac	rs781444670
Gnomad	rs781444670
Varsome	rs781444670
LitVar	rs781444670
Map	rs781444670
PheGenI	rs781444670
Biobank	rs781444670
1000 genomes	rs781444670
hgdp	rs781444670
ensembl	rs781444670
geneview	rs781444670
scholar	rs781444670
google	rs781444670
pharmgkb	rs781444670
gwascentral	rs781444670
openSNP	rs781444670
23andMe	rs781444670
SNPshot	rs781444670
SNPdbe	rs781444670
MSV3d	rs781444670
GWAS Ctlg	rs781444670

Max Magnitude

3

ClinVar
Risk	rs781444670(T;T)
Alt	rs781444670(T;T)
Reference	Rs781444670(C;C)
Significance	Pathogenic
Disease	Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria due to CBS deficiency
Reversed	0
HGVS	NC_000021.8:g.44486430C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000178709.1,