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rs267606742

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606742(A;A)
Make rs267606742(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94427628
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs267606742
ebirs267606742
HLIrs267606742
Exacrs267606742
Varsomers267606742
Maprs267606742
PheGenIrs267606742
hapmaprs267606742
1000 genomesrs267606742
hgdprs267606742
ensemblrs267606742
gopubmedrs267606742
geneviewrs267606742
scholarrs267606742
googlers267606742
pharmgkbrs267606742
gwascentralrs267606742
openSNPrs267606742
23andMers267606742
23andMe allrs267606742
SNP Nexus

SNPshotrs267606742
SNPdbers267606742
MSV3drs267606742
GWAS Ctlgrs267606742
Max Magnitude0
ClinVar
Risk rs267606742(A;A)
Alt rs267606742(A;A)
Reference rs267606742(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type III
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta type III
Reversed 0
HGVS NC_000007.13:g.94056940G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018823.28,