rs375846341

Orientation

plus

Stabilized

plus

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

Make rs375846341(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

43058970

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs375846341
dbSNP (classic)	rs375846341
ClinGen	rs375846341
ebi	rs375846341
HLI	rs375846341
Exac	rs375846341
Gnomad	rs375846341
Varsome	rs375846341
LitVar	rs375846341
Map	rs375846341
PheGenI	rs375846341
Biobank	rs375846341
1000 genomes	rs375846341
hgdp	rs375846341
ensembl	rs375846341
geneview	rs375846341
scholar	rs375846341
google	rs375846341
pharmgkb	rs375846341
gwascentral	rs375846341
openSNP	rs375846341
23andMe	rs375846341
SNPshot	rs375846341
SNPdbe	rs375846341
MSV3d	rs375846341
GWAS Ctlg	rs375846341

Max Magnitude

3

ClinVar
Risk	rs375846341(G;G)
Alt	rs375846341(G;G)
Reference	Rs375846341(T;T)
Significance	Pathogenic
Disease	Homocystinuria Homocystinuria due to CBS deficiency not provided
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria, pyridoxine-responsive Homocystinuria due to CBS deficiency not provided
Reversed	0
HGVS	NC_000021.8:g.44479080T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000151.2, RCV000174658.1, RCV000198380.2,