rs557317492

Orientation

plus

Stabilized

plus

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

Make rs557317492(C;T)

Make rs557317492(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

11974699

Gene

PLOD1

is a	snp
is	mentioned by
dbSNP	rs557317492
dbSNP (classic)	rs557317492
ClinGen	rs557317492
ebi	rs557317492
HLI	rs557317492
Exac	rs557317492
Gnomad	rs557317492
Varsome	rs557317492
LitVar	rs557317492
Map	rs557317492
PheGenI	rs557317492
Biobank	rs557317492
1000 genomes	rs557317492
hgdp	rs557317492
ensembl	rs557317492
geneview	rs557317492
scholar	rs557317492
google	rs557317492
pharmgkb	rs557317492
gwascentral	rs557317492
openSNP	rs557317492
23andMe	rs557317492
SNPshot	rs557317492
SNPdbe	rs557317492
MSV3d	rs557317492
GWAS Ctlg	rs557317492

Max Magnitude

0

ClinVar
Risk	rs557317492(T;T)
Alt	rs557317492(T;T)
Reference	Rs557317492(C;C)
Significance	Probable-Pathogenic
Disease	Ehlers-Danlos syndrome Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	PLOD1
CLNDBN	Ehlers-Danlos syndrome, hydroxylysine-deficient Thoracic aortic aneurysm and aortic dissection
Reversed	0
HGVS	NC_000001.10:g.12034756C>T
CLNSRC
CLNACC	RCV000202446.1, RCV000246181.1, RCV000301074.1,