rs775992753

Orientation

plus

Stabilized

plus

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

Make rs775992753(A;A)

Make rs775992753(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

43066333

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs775992753
dbSNP (classic)	rs775992753
ClinGen	rs775992753
ebi	rs775992753
HLI	rs775992753
Exac	rs775992753
Gnomad	rs775992753
Varsome	rs775992753
LitVar	rs775992753
Map	rs775992753
PheGenI	rs775992753
Biobank	rs775992753
1000 genomes	rs775992753
hgdp	rs775992753
ensembl	rs775992753
geneview	rs775992753
scholar	rs775992753
google	rs775992753
pharmgkb	rs775992753
gwascentral	rs775992753
openSNP	rs775992753
23andMe	rs775992753
SNPshot	rs775992753
SNPdbe	rs775992753
MSV3d	rs775992753
GWAS Ctlg	rs775992753

Max Magnitude

0

ClinVar
Risk	rs775992753(A;A)
Alt	rs775992753(A;A)
Reference	Rs775992753(G;G)
Significance	Pathogenic
Disease	not provided Homocystinuria Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	not provided Homocystinuria Homocystinuria due to CBS deficiency
Reversed	0
HGVS	NC_000021.8:g.44486443G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000196859.1, RCV000311440.1, RCV000475484.1,