rs148865119

Orientation

plus

Stabilized

plus

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

Make rs148865119(A;A)

Make rs148865119(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

43072048

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs148865119
dbSNP (classic)	rs148865119
ClinGen	rs148865119
ebi	rs148865119
HLI	rs148865119
Exac	rs148865119
Gnomad	rs148865119
Varsome	rs148865119
LitVar	rs148865119
Map	rs148865119
PheGenI	rs148865119
Biobank	rs148865119
1000 genomes	rs148865119
hgdp	rs148865119
ensembl	rs148865119
geneview	rs148865119
scholar	rs148865119
google	rs148865119
pharmgkb	rs148865119
gwascentral	rs148865119
openSNP	rs148865119
23andMe	rs148865119
SNPshot	rs148865119
SNPdbe	rs148865119
MSV3d	rs148865119
GWAS Ctlg	rs148865119

Max Magnitude

0

ClinVar
Risk	rs148865119(A;A) rs148865119(C;C)
Alt	rs148865119(A;A) rs148865119(C;C)
Reference	Rs148865119(G;G)
Significance	Pathogenic
Disease	not provided Thoracic aortic aneurysm and aortic dissection Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	not provided Thoracic aortic aneurysm and aortic dissection Homocystinuria due to CBS deficiency
Reversed	0
HGVS	NC_000021.8:g.44492158G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000200523.2, RCV000242293.1, RCV000410155.1,