rs121913551

Orientation

plus

Stabilized

plus

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

Make rs121913551(A;A)

Make rs121913551(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11974656

Gene

PLOD1

is a	snp
is	mentioned by
dbSNP	rs121913551
dbSNP (classic)	rs121913551
ClinGen	rs121913551
ebi	rs121913551
HLI	rs121913551
Exac	rs121913551
Gnomad	rs121913551
Varsome	rs121913551
LitVar	rs121913551
Map	rs121913551
PheGenI	rs121913551
Biobank	rs121913551
1000 genomes	rs121913551
hgdp	rs121913551
ensembl	rs121913551
geneview	rs121913551
scholar	rs121913551
google	rs121913551
pharmgkb	rs121913551
gwascentral	rs121913551
openSNP	rs121913551
23andMe	rs121913551
SNPshot	rs121913551
SNPdbe	rs121913551
MSV3d	rs121913551
GWAS Ctlg	rs121913551

Max Magnitude

0

OMIM	153454
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121913551(A;A)
Alt	rs121913551(A;A)
Reference	Rs121913551(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.12034713G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015442.28,