rs199948079

Orientation

plus

Stabilized

plus

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

Make rs199948079(C;T)

Make rs199948079(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

43072032

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs199948079
dbSNP (classic)	rs199948079
ClinGen	rs199948079
ebi	rs199948079
HLI	rs199948079
Exac	rs199948079
Gnomad	rs199948079
Varsome	rs199948079
LitVar	rs199948079
Map	rs199948079
PheGenI	rs199948079
Biobank	rs199948079
1000 genomes	rs199948079
hgdp	rs199948079
ensembl	rs199948079
geneview	rs199948079
scholar	rs199948079
google	rs199948079
pharmgkb	rs199948079
gwascentral	rs199948079
openSNP	rs199948079
23andMe	rs199948079
SNPshot	rs199948079
SNPdbe	rs199948079
MSV3d	rs199948079
GWAS Ctlg	rs199948079

Max Magnitude

0

ClinVar
Risk	rs199948079(T;T)
Alt	rs199948079(T;T)
Reference	Rs199948079(C;C)
Significance	Probable-Pathogenic
Disease	Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria due to CBS deficiency
Reversed	0
HGVS	NC_000021.8:g.44492142C>T
CLNSRC
CLNACC	RCV000409663.1,