rs797044446

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGG;AGG)	0	common in clinvar
(GAG;GAG)	0	common in clinvar
(I;I)	0	common genotype

Make rs797044446(-;-)

Make rs797044446(-;GAG)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

11966260

Gene

PLOD1

is a	snp
is	mentioned by
dbSNP	rs797044446
dbSNP (classic)	rs797044446
ClinGen	rs797044446
ebi	rs797044446
HLI	rs797044446
Exac	rs797044446
Gnomad	rs797044446
Varsome	rs797044446
LitVar	rs797044446
Map	rs797044446
PheGenI	rs797044446
Biobank	rs797044446
1000 genomes	rs797044446
hgdp	rs797044446
ensembl	rs797044446
geneview	rs797044446
scholar	rs797044446
google	rs797044446
pharmgkb	rs797044446
gwascentral	rs797044446
openSNP	rs797044446
23andMe	rs797044446
SNPshot	rs797044446
SNPdbe	rs797044446
MSV3d	rs797044446
GWAS Ctlg	rs797044446

Max Magnitude

0

ClinVar
Risk	rs797044446(-;-) Rs797044446(AGG;AGG)
Alt	rs797044446(-;-) Rs797044446(AGG;AGG)
Reference	Rs797044446(GAG;GAG)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	PLOD1
CLNDBN	Ehlers-Danlos syndrome, hydroxylysine-deficient
Reversed	0
HGVS	NC_000001.10:g.12026317_12026319delGAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015443.24,