rs121964966

Orientation

minus

Stabilized

minus

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

Make rs121964966(A;A)

Make rs121964966(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43066264

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs121964966
dbSNP (classic)	rs121964966
ClinGen	rs121964966
ebi	rs121964966
HLI	rs121964966
Exac	rs121964966
Gnomad	rs121964966
Varsome	rs121964966
LitVar	rs121964966
Map	rs121964966
PheGenI	rs121964966
Biobank	rs121964966
1000 genomes	rs121964966
hgdp	rs121964966
ensembl	rs121964966
geneview	rs121964966
scholar	rs121964966
google	rs121964966
pharmgkb	rs121964966
gwascentral	rs121964966
openSNP	rs121964966
23andMe	rs121964966
SNPshot	rs121964966
SNPdbe	rs121964966
MSV3d	rs121964966
GWAS Ctlg	rs121964966

Max Magnitude

0

OMIM	613381
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121964966(A;A) rs121964966(C;C)
Alt	rs121964966(A;A) rs121964966(C;C)
Reference	Rs121964966(G;G)
Significance	Other
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.44486374C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000144.3, RCV000169074.2,