rs121913550

Orientation

plus

Stabilized

plus

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

Make rs121913550(C;T)

Make rs121913550(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11958627

Gene

PLOD1

is a	snp
is	mentioned by
dbSNP	rs121913550
dbSNP (classic)	rs121913550
ClinGen	rs121913550
ebi	rs121913550
HLI	rs121913550
Exac	rs121913550
Gnomad	rs121913550
Varsome	rs121913550
LitVar	rs121913550
Map	rs121913550
PheGenI	rs121913550
Biobank	rs121913550
1000 genomes	rs121913550
hgdp	rs121913550
ensembl	rs121913550
geneview	rs121913550
scholar	rs121913550
google	rs121913550
pharmgkb	rs121913550
gwascentral	rs121913550
openSNP	rs121913550
23andMe	rs121913550
SNPshot	rs121913550
SNPdbe	rs121913550
MSV3d	rs121913550
GWAS Ctlg	rs121913550

Max Magnitude

0

OMIM	153454
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121913550(T;T)
Alt	rs121913550(T;T)
Reference	Rs121913550(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.12018684C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015438.26,