rs72667023

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(I;I)	0
(T;T)	0	common in clinvar

Make rs72667023(-;-)

Make rs72667023(-;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50198170

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs72667023
dbSNP (classic)	rs72667023
ClinGen	rs72667023
ebi	rs72667023
HLI	rs72667023
Exac	rs72667023
Gnomad	rs72667023
Varsome	rs72667023
LitVar	rs72667023
Map	rs72667023
PheGenI	rs72667023
Biobank	rs72667023
1000 genomes	rs72667023
hgdp	rs72667023
ensembl	rs72667023
geneview	rs72667023
scholar	rs72667023
google	rs72667023
pharmgkb	rs72667023
gwascentral	rs72667023
openSNP	rs72667023
23andMe	rs72667023
SNPshot	rs72667023
SNPdbe	rs72667023
MSV3d	rs72667023
GWAS Ctlg	rs72667023

Max Magnitude

0

ClinVar
Risk	rs72667023(-;-)
Alt	rs72667023(-;-)
Reference	Rs72667023(T;T)
Significance	Pathogenic
Disease	Osteogenesis imperfecta Osteogenesis imperfecta type I
Variation	info
Gene	COL1A1
CLNDBN	Osteogenesis imperfecta Osteogenesis imperfecta type I
Reversed	1
HGVS	NC_000017.10:g.48275531delA
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029580.1, RCV000490677.1,

[PMID 19358256] Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta.