rs72659354

Orientation

minus

Stabilized

minus

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

Make rs72659354(G;T)

Make rs72659354(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

42752536

Gene	LEPRE1, P3H1

is a	snp
is	mentioned by
dbSNP	rs72659354
dbSNP (classic)	rs72659354
ClinGen	rs72659354
ebi	rs72659354
HLI	rs72659354
Exac	rs72659354
Gnomad	rs72659354
Varsome	rs72659354
LitVar	rs72659354
Map	rs72659354
PheGenI	rs72659354
Biobank	rs72659354
1000 genomes	rs72659354
hgdp	rs72659354
ensembl	rs72659354
geneview	rs72659354
scholar	rs72659354
google	rs72659354
pharmgkb	rs72659354
gwascentral	rs72659354
openSNP	rs72659354
23andMe	rs72659354
SNPshot	rs72659354
SNPdbe	rs72659354
MSV3d	rs72659354
GWAS Ctlg	rs72659354

Max Magnitude

0

ClinVar
Risk	rs72659354(T;T)
Alt	rs72659354(T;T)
Reference	Rs72659354(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type 8
Variation	info
Gene	LEPRE1 P3H1
CLNDBN	Osteogenesis imperfecta type 8
Reversed	1
HGVS	NC_000001.10:g.43218207C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001316.3,