rs28934891

Orientation

minus

Stabilized

minus

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

Make rs28934891(A;A)

Make rs28934891(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43058862

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs28934891
dbSNP (classic)	rs28934891
ClinGen	rs28934891
ebi	rs28934891
HLI	rs28934891
Exac	rs28934891
Gnomad	rs28934891
Varsome	rs28934891
LitVar	rs28934891
Map	rs28934891
PheGenI	rs28934891
Biobank	rs28934891
1000 genomes	rs28934891
hgdp	rs28934891
ensembl	rs28934891
geneview	rs28934891
scholar	rs28934891
google	rs28934891
pharmgkb	rs28934891
gwascentral	rs28934891
openSNP	rs28934891
23andMe	rs28934891
SNPshot	rs28934891
SNPdbe	rs28934891
MSV3d	rs28934891
GWAS Ctlg	rs28934891

Max Magnitude

0

OMIM	236200
Desc	HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
Variant	0010
Related	also

OMIM	613381
Desc
Variant	0010
Related	also

ClinVar
Risk	rs28934891(A;A)
Alt	rs28934891(A;A)
Reference	Rs28934891(G;G)
Significance	Pathogenic
Disease	Homocystinuria HYPERHOMOCYSTEINEMIA not provided Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria, pyridoxine-responsive HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED not provided Homocystinuria due to CBS deficiency
Reversed	1
HGVS	NC_000021.8:g.44478972C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000148.3, RCV000000149.3, RCV000078108.5, RCV000174656.1,