rs121964965

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	Carrier of a homocystinuria mutation
(G;G)	0	common in clinvar

Make rs121964965(A;A)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43066279

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs121964965
dbSNP (classic)	rs121964965
ClinGen	rs121964965
ebi	rs121964965
HLI	rs121964965
Exac	rs121964965
Gnomad	rs121964965
Varsome	rs121964965
LitVar	rs121964965
Map	rs121964965
PheGenI	rs121964965
Biobank	rs121964965
1000 genomes	rs121964965
hgdp	rs121964965
ensembl	rs121964965
geneview	rs121964965
scholar	rs121964965
google	rs121964965
pharmgkb	rs121964965
gwascentral	rs121964965
openSNP	rs121964965
23andMe	rs121964965
SNPshot	rs121964965
SNPdbe	rs121964965
MSV3d	rs121964965
GWAS Ctlg	rs121964965

Max Magnitude

3

OMIM	613381
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121964965(A;A)
Alt	rs121964965(A;A)
Reference	Rs121964965(G;G)
Significance	Pathogenic
Disease	Homocystinuria
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria, pyridoxine-responsive
Reversed	1
HGVS	NC_000021.8:g.44486389C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000143.3,