rs2298758

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs2298758(A;A)

Make rs2298758(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43065417

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs2298758
dbSNP (classic)	rs2298758
ClinGen	rs2298758
ebi	rs2298758
HLI	rs2298758
Exac	rs2298758
Gnomad	rs2298758
Varsome	rs2298758
LitVar	rs2298758
Map	rs2298758
PheGenI	rs2298758
Biobank	rs2298758
1000 genomes	rs2298758
hgdp	rs2298758
ensembl	rs2298758
geneview	rs2298758
scholar	rs2298758
google	rs2298758
pharmgkb	rs2298758
gwascentral	rs2298758
openSNP	rs2298758
23andMe	rs2298758
SNPshot	rs2298758
SNPdbe	rs2298758
MSV3d	rs2298758
GWAS Ctlg	rs2298758

GMAF

0.004132

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

Being investigated in Ehlers-Danlos syndrome

ClinVar
Risk	rs2298758(A;A) rs2298758(C;C)
Alt	rs2298758(A;A) rs2298758(C;C)
Reference	Rs2298758(G;G)
Significance	Non-pathogenic
Disease	not specified Thoracic aortic aneurysm and aortic dissection Homocystinuria
Variation	info
Gene	CBSL CBS
CLNDBN	not specified Thoracic aortic aneurysm and aortic dissection Homocystinuria
Reversed	0
HGVS	NC_000021.8:g.44485527G>A; NC_000021.8:g.44485527G>C
CLNSRC	ClinVar GeneDx
CLNACC	RCV000124148.3, RCV000254497.1, RCV000281054.1, RCV000196277.1,