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rs72648320

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72648320(A;A)
Make rs72648320(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50195433
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72648320
ebirs72648320
HLIrs72648320
Exacrs72648320
Varsomers72648320
Maprs72648320
PheGenIrs72648320
hapmaprs72648320
1000 genomesrs72648320
hgdprs72648320
ensemblrs72648320
gopubmedrs72648320
geneviewrs72648320
scholarrs72648320
googlers72648320
pharmgkbrs72648320
gwascentralrs72648320
openSNPrs72648320
23andMers72648320
23andMe allrs72648320
SNP Nexus

SNPshotrs72648320
SNPdbers72648320
MSV3drs72648320
GWAS Ctlgrs72648320
Max Magnitude0
ClinVar
Risk rs72648320(A;A)
Alt rs72648320(A;A)
Reference rs72648320(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48272794C>T
CLNSRC ClinVar
CLNACC RCV000029553.1,



[PMID 7942841OA-icon.png] Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.