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rs139446305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139446305(A;A)
Make rs139446305(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94411099
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs139446305
ebirs139446305
HLIrs139446305
Exacrs139446305
Varsomers139446305
Maprs139446305
PheGenIrs139446305
hapmaprs139446305
1000 genomesrs139446305
hgdprs139446305
ensemblrs139446305
gopubmedrs139446305
geneviewrs139446305
scholarrs139446305
googlers139446305
pharmgkbrs139446305
gwascentralrs139446305
openSNPrs139446305
23andMers139446305
23andMe allrs139446305
SNP Nexus

SNPshotrs139446305
SNPdbers139446305
MSV3drs139446305
GWAS Ctlgrs139446305
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs139446305(A;A)
Alt rs139446305(A;A)
Reference rs139446305(G;G)
Significance Probable-Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta
Reversed 0
HGVS NC_000007.13:g.94040411G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029590.1,