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rs72667023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(I;I) 0
(T;T) 0 common in clinvar
Make rs72667023(-;-)
Make rs72667023(-;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50198170
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72667023
ebirs72667023
HLIrs72667023
Exacrs72667023
Varsomers72667023
Maprs72667023
PheGenIrs72667023
hapmaprs72667023
1000 genomesrs72667023
hgdprs72667023
ensemblrs72667023
gopubmedrs72667023
geneviewrs72667023
scholarrs72667023
googlers72667023
pharmgkbrs72667023
gwascentralrs72667023
openSNPrs72667023
23andMers72667023
23andMe allrs72667023
SNP Nexus

SNPshotrs72667023
SNPdbers72667023
MSV3drs72667023
GWAS Ctlgrs72667023
Max Magnitude0
ClinVar
Risk rs72667023(;)
Alt rs72667023(;)
Reference rs72667023(T;T)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48275531delA
CLNSRC ClinVar LabCorp
CLNACC RCV000029580.1,



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