rs121964969

Orientation

minus

Stabilized

minus

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

Make rs121964969(A;A)

Make rs121964969(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43063931

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs121964969
dbSNP (classic)	rs121964969
ClinGen	rs121964969
ebi	rs121964969
HLI	rs121964969
Exac	rs121964969
Gnomad	rs121964969
Varsome	rs121964969
LitVar	rs121964969
Map	rs121964969
PheGenI	rs121964969
Biobank	rs121964969
1000 genomes	rs121964969
hgdp	rs121964969
ensembl	rs121964969
geneview	rs121964969
scholar	rs121964969
google	rs121964969
pharmgkb	rs121964969
gwascentral	rs121964969
openSNP	rs121964969
23andMe	rs121964969
SNPshot	rs121964969
SNPdbe	rs121964969
MSV3d	rs121964969
GWAS Ctlg	rs121964969

Merged from

Rs28934275

Max Magnitude

0

OMIM	613381
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121964969(A;A)
Alt	rs121964969(A;A)
Reference	Rs121964969(G;G)
Significance	Pathogenic
Disease	Homocystinuria Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria, pyridoxine-responsive Homocystinuria due to CBS deficiency
Reversed	1
HGVS	NC_000021.8:g.44484041C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000147.3, RCV000469164.1,