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rs72645328

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72645328(A;A)
Make rs72645328(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50196670
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72645328
ebirs72645328
HLIrs72645328
Exacrs72645328
Varsomers72645328
Maprs72645328
PheGenIrs72645328
hapmaprs72645328
1000 genomesrs72645328
hgdprs72645328
ensemblrs72645328
gopubmedrs72645328
geneviewrs72645328
scholarrs72645328
googlers72645328
pharmgkbrs72645328
gwascentralrs72645328
openSNPrs72645328
23andMers72645328
23andMe allrs72645328
SNP Nexus

SNPshotrs72645328
SNPdbers72645328
MSV3drs72645328
GWAS Ctlgrs72645328
Max Magnitude0
ClinVar
Risk rs72645328(A;A)
Alt rs72645328(A;A)
Reference rs72645328(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48274031C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029584.1,



[PMID 17078022OA-icon.png] Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.