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rs72645320

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72645320(A;A)
Make rs72645320(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50197053
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72645320
ebirs72645320
HLIrs72645320
Exacrs72645320
Varsomers72645320
Maprs72645320
PheGenIrs72645320
hapmaprs72645320
1000 genomesrs72645320
hgdprs72645320
ensemblrs72645320
gopubmedrs72645320
geneviewrs72645320
scholarrs72645320
googlers72645320
pharmgkbrs72645320
gwascentralrs72645320
openSNPrs72645320
23andMers72645320
23andMe allrs72645320
SNP Nexus

SNPshotrs72645320
SNPdbers72645320
MSV3drs72645320
GWAS Ctlgrs72645320
Max Magnitude0
OMIM120150
Desc
Variant0065
Relatedalso


ClinVar
Risk rs72645320(A;A)
Alt rs72645320(A;A)
Reference rs72645320(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type III
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type III
Reversed 1
HGVS NC_000017.10:g.48274414C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018892.23,