rs758236584

Orientation

plus

Stabilized

plus

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

Make rs758236584(A;A)

Make rs758236584(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

43063958

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs758236584
dbSNP (classic)	rs758236584
ClinGen	rs758236584
ebi	rs758236584
HLI	rs758236584
Exac	rs758236584
Gnomad	rs758236584
Varsome	rs758236584
LitVar	rs758236584
Map	rs758236584
PheGenI	rs758236584
Biobank	rs758236584
1000 genomes	rs758236584
hgdp	rs758236584
ensembl	rs758236584
geneview	rs758236584
scholar	rs758236584
google	rs758236584
pharmgkb	rs758236584
gwascentral	rs758236584
openSNP	rs758236584
23andMe	rs758236584
SNPshot	rs758236584
SNPdbe	rs758236584
MSV3d	rs758236584
GWAS Ctlg	rs758236584

Max Magnitude

0

ClinVar
Risk	rs758236584(A;A)
Alt	rs758236584(A;A)
Reference	Rs758236584(G;G)
Significance	Pathogenic
Disease	Homocystinuria due to CBS deficiency not provided
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria due to CBS deficiency not provided
Reversed	0
HGVS	NC_000021.8:g.44484068G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169294.1, RCV000197988.1,