rs763835246

Orientation

plus

Stabilized

plus

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

Make rs763835246(C;T)

Make rs763835246(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

43065263

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs763835246
dbSNP (classic)	rs763835246
ClinGen	rs763835246
ebi	rs763835246
HLI	rs763835246
Exac	rs763835246
Gnomad	rs763835246
Varsome	rs763835246
LitVar	rs763835246
Map	rs763835246
PheGenI	rs763835246
Biobank	rs763835246
1000 genomes	rs763835246
hgdp	rs763835246
ensembl	rs763835246
geneview	rs763835246
scholar	rs763835246
google	rs763835246
pharmgkb	rs763835246
gwascentral	rs763835246
openSNP	rs763835246
23andMe	rs763835246
SNPshot	rs763835246
SNPdbe	rs763835246
MSV3d	rs763835246
GWAS Ctlg	rs763835246

Max Magnitude

0

ClinVar
Risk	rs763835246(G;G) rs763835246(T;T)
Alt	rs763835246(G;G) rs763835246(T;T)
Reference	Rs763835246(C;C)
Significance	Probable-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.44485373C>T
CLNSRC
CLNACC	RCV000412334.1,