rs121913553

Orientation

plus

Stabilized

plus

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

Make rs121913553(C;C)

Make rs121913553(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11970750

Gene

PLOD1

is a	snp
is	mentioned by
dbSNP	rs121913553
dbSNP (classic)	rs121913553
ClinGen	rs121913553
ebi	rs121913553
HLI	rs121913553
Exac	rs121913553
Gnomad	rs121913553
Varsome	rs121913553
LitVar	rs121913553
Map	rs121913553
PheGenI	rs121913553
Biobank	rs121913553
1000 genomes	rs121913553
hgdp	rs121913553
ensembl	rs121913553
geneview	rs121913553
scholar	rs121913553
google	rs121913553
pharmgkb	rs121913553
gwascentral	rs121913553
openSNP	rs121913553
23andMe	rs121913553
SNPshot	rs121913553
SNPdbe	rs121913553
MSV3d	rs121913553
GWAS Ctlg	rs121913553

Max Magnitude

0

OMIM	153454
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121913553(C;C)
Alt	rs121913553(C;C)
Reference	Rs121913553(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	PLOD1
CLNDBN	Ehlers-Danlos syndrome, hydroxylysine-deficient
Reversed	0
HGVS	NC_000001.10:g.12030807G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015449.27,