rs140002610

Orientation

plus

Stabilized

plus

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

Make rs140002610(A;A)

Make rs140002610(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

43066300

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs140002610
dbSNP (classic)	rs140002610
ClinGen	rs140002610
ebi	rs140002610
HLI	rs140002610
Exac	rs140002610
Gnomad	rs140002610
Varsome	rs140002610
LitVar	rs140002610
Map	rs140002610
PheGenI	rs140002610
Biobank	rs140002610
1000 genomes	rs140002610
hgdp	rs140002610
ensembl	rs140002610
geneview	rs140002610
scholar	rs140002610
google	rs140002610
pharmgkb	rs140002610
gwascentral	rs140002610
openSNP	rs140002610
23andMe	rs140002610
SNPshot	rs140002610
SNPdbe	rs140002610
MSV3d	rs140002610
GWAS Ctlg	rs140002610

Max Magnitude

0

ClinVar
Risk	rs140002610(A;A) rs140002610(T;T)
Alt	rs140002610(A;A) rs140002610(T;T)
Reference	Rs140002610(G;G)
Significance	Probable-Pathogenic
Disease	not specified Homocystinuria due to CBS deficiency Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	CBSL CBS
CLNDBN	not specified Homocystinuria due to CBS deficiency Thoracic aortic aneurysm and aortic dissection
Reversed	0
HGVS	NC_000021.8:g.44486410G>A; NC_000021.8:g.44486410G>T
CLNSRC
CLNACC	RCV000195820.4, RCV000460928.1, RCV000247887.1,