rs797044448

Orientation

plus

Stabilized

plus

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

Make rs797044448(A;A)

Make rs797044448(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

11952736

Gene

PLOD1

is a	snp
is	mentioned by
dbSNP	rs797044448
dbSNP (classic)	rs797044448
ClinGen	rs797044448
ebi	rs797044448
HLI	rs797044448
Exac	rs797044448
Gnomad	rs797044448
Varsome	rs797044448
LitVar	rs797044448
Map	rs797044448
PheGenI	rs797044448
Biobank	rs797044448
1000 genomes	rs797044448
hgdp	rs797044448
ensembl	rs797044448
geneview	rs797044448
scholar	rs797044448
google	rs797044448
pharmgkb	rs797044448
gwascentral	rs797044448
openSNP	rs797044448
23andMe	rs797044448
SNPshot	rs797044448
SNPdbe	rs797044448
MSV3d	rs797044448
GWAS Ctlg	rs797044448

Max Magnitude

0

ClinVar
Risk	rs797044448(A;A)
Alt	rs797044448(A;A)
Reference	Rs797044448(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.12012793G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015448.27,