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rs72653173

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72653173(C;T)
Make rs72653173(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50188765
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72653173
ebirs72653173
HLIrs72653173
Exacrs72653173
Varsomers72653173
Maprs72653173
PheGenIrs72653173
hapmaprs72653173
1000 genomesrs72653173
hgdprs72653173
ensemblrs72653173
gopubmedrs72653173
geneviewrs72653173
scholarrs72653173
googlers72653173
pharmgkbrs72653173
gwascentralrs72653173
openSNPrs72653173
23andMers72653173
23andMe allrs72653173
SNP Nexus

SNPshotrs72653173
SNPdbers72653173
MSV3drs72653173
GWAS Ctlgrs72653173
Max Magnitude0
ClinVar
Risk rs72653173(T;T)
Alt rs72653173(T;T)
Reference rs72653173(C;C)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48266126G>A
CLNSRC ClinVar
CLNACC RCV000029575.1,



[PMID 11113887] Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy.


[PMID 15024745] Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.


[PMID 15241796] Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.


[PMID 17392686OA-icon.png] A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.