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rs72658154

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72658154(A;A)
Make rs72658154(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94418518
GeneCHRNA1, COL1A2
is asnp
is mentioned by
dbSNPrs72658154
ebirs72658154
HLIrs72658154
Exacrs72658154
Varsomers72658154
Maprs72658154
PheGenIrs72658154
hapmaprs72658154
1000 genomesrs72658154
hgdprs72658154
ensemblrs72658154
gopubmedrs72658154
geneviewrs72658154
scholarrs72658154
googlers72658154
pharmgkbrs72658154
gwascentralrs72658154
openSNPrs72658154
23andMers72658154
23andMe allrs72658154
SNP Nexus

SNPshotrs72658154
SNPdbers72658154
MSV3drs72658154
GWAS Ctlgrs72658154
Max Magnitude0
ClinVar
Risk rs72658154(A;A)
Alt rs72658154(A;A)
Reference rs72658154(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta
Reversed 0
HGVS NC_000007.13:g.94047830G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029595.1,



[PMID 11317364] Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.