rs786204757

Orientation

minus

Stabilized

minus

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

Make rs786204757(C;C)

Make rs786204757(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

21

Position

43068523

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs786204757
dbSNP (classic)	rs786204757
ClinGen	rs786204757
ebi	rs786204757
HLI	rs786204757
Exac	rs786204757
Gnomad	rs786204757
Varsome	rs786204757
LitVar	rs786204757
Map	rs786204757
PheGenI	rs786204757
Biobank	rs786204757
1000 genomes	rs786204757
hgdp	rs786204757
ensembl	rs786204757
geneview	rs786204757
scholar	rs786204757
google	rs786204757
pharmgkb	rs786204757
gwascentral	rs786204757
openSNP	rs786204757
23andMe	rs786204757
SNPshot	rs786204757
SNPdbe	rs786204757
MSV3d	rs786204757
GWAS Ctlg	rs786204757

Max Magnitude

0

ClinVar
Risk	rs786204757(C;C)
Alt	rs786204757(C;C)
Reference	Rs786204757(T;T)
Significance	Probable-Pathogenic
Disease	Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria due to CBS deficiency
Reversed	1
HGVS	NC_000021.8:g.44488633A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169617.1,