rs760214620

Orientation

plus

Stabilized

plus

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

Make rs760214620(C;T)

Make rs760214620(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

43066348

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs760214620
dbSNP (classic)	rs760214620
ClinGen	rs760214620
ebi	rs760214620
HLI	rs760214620
Exac	rs760214620
Gnomad	rs760214620
Varsome	rs760214620
LitVar	rs760214620
Map	rs760214620
PheGenI	rs760214620
Biobank	rs760214620
1000 genomes	rs760214620
hgdp	rs760214620
ensembl	rs760214620
geneview	rs760214620
scholar	rs760214620
google	rs760214620
pharmgkb	rs760214620
gwascentral	rs760214620
openSNP	rs760214620
23andMe	rs760214620
SNPshot	rs760214620
SNPdbe	rs760214620
MSV3d	rs760214620
GWAS Ctlg	rs760214620

Max Magnitude

0

ClinVar
Risk	rs760214620(T;T)
Alt	rs760214620(T;T)
Reference	Rs760214620(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.44486458C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169116.1,