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rs72645357

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72645357(A;A)
Make rs72645357(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50196163
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72645357
ebirs72645357
HLIrs72645357
Exacrs72645357
Varsomers72645357
Maprs72645357
PheGenIrs72645357
hapmaprs72645357
1000 genomesrs72645357
hgdprs72645357
ensemblrs72645357
gopubmedrs72645357
geneviewrs72645357
scholarrs72645357
googlers72645357
pharmgkbrs72645357
gwascentralrs72645357
openSNPrs72645357
23andMers72645357
23andMe allrs72645357
SNP Nexus

SNPshotrs72645357
SNPdbers72645357
MSV3drs72645357
GWAS Ctlgrs72645357
Max Magnitude0
OMIM120150
Desc
Variant0030
Relatedalso


ClinVar
Risk rs72645357(A;A)
Alt rs72645357(A;A)
Reference rs72645357(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type III Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type III Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48273524C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018853.27, RCV000029586.1,



[PMID 2037280] Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.

[PMID 8669434] Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation.

[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.