rs72659348

Orientation

minus

Stabilized

minus

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

Make rs72659348(-;-)

Make rs72659348(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

42759262

Gene	LEPRE1, P3H1

is a	snp
is	mentioned by
dbSNP	rs72659348
dbSNP (classic)	rs72659348
ClinGen	rs72659348
ebi	rs72659348
HLI	rs72659348
Exac	rs72659348
Gnomad	rs72659348
Varsome	rs72659348
LitVar	rs72659348
Map	rs72659348
PheGenI	rs72659348
Biobank	rs72659348
1000 genomes	rs72659348
hgdp	rs72659348
ensembl	rs72659348
geneview	rs72659348
scholar	rs72659348
google	rs72659348
pharmgkb	rs72659348
gwascentral	rs72659348
openSNP	rs72659348
23andMe	rs72659348
SNPshot	rs72659348
SNPdbe	rs72659348
MSV3d	rs72659348
GWAS Ctlg	rs72659348

Max Magnitude

0

ClinVar
Risk	rs72659348(-;-)
Alt	rs72659348(-;-)
Reference	Rs72659348(C;C)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type 8
Variation	info
Gene	LEPRE1 P3H1
CLNDBN	Osteogenesis imperfecta type 8
Reversed	1
HGVS	NC_000001.10:g.43224933delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001317.3,