rs121913554

Orientation

plus

Stabilized

plus

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

Make rs121913554(C;T)

Make rs121913554(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11972977

Gene

PLOD1

is a	snp
is	mentioned by
dbSNP	rs121913554
dbSNP (classic)	rs121913554
ClinGen	rs121913554
ebi	rs121913554
HLI	rs121913554
Exac	rs121913554
Gnomad	rs121913554
Varsome	rs121913554
LitVar	rs121913554
Map	rs121913554
PheGenI	rs121913554
Biobank	rs121913554
1000 genomes	rs121913554
hgdp	rs121913554
ensembl	rs121913554
geneview	rs121913554
scholar	rs121913554
google	rs121913554
pharmgkb	rs121913554
gwascentral	rs121913554
openSNP	rs121913554
23andMe	rs121913554
SNPshot	rs121913554
SNPdbe	rs121913554
MSV3d	rs121913554
GWAS Ctlg	rs121913554

GMAF

0.0004591

Max Magnitude

0

OMIM	153454
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121913554(T;T)
Alt	rs121913554(T;T)
Reference	Rs121913554(C;C)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	PLOD1
CLNDBN	Ehlers-Danlos syndrome, hydroxylysine-deficient
Reversed	0
HGVS	NC_000001.10:g.12033034C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015440.23,