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rs794726873

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726873(C;T)
Make rs794726873(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position50201423
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs794726873
ebirs794726873
HLIrs794726873
Exacrs794726873
Varsomers794726873
Maprs794726873
PheGenIrs794726873
hapmaprs794726873
1000 genomesrs794726873
hgdprs794726873
ensemblrs794726873
gopubmedrs794726873
geneviewrs794726873
scholarrs794726873
googlers794726873
pharmgkbrs794726873
gwascentralrs794726873
openSNPrs794726873
23andMers794726873
23andMe allrs794726873
SNP Nexus

SNPshotrs794726873
SNPdbers794726873
MSV3drs794726873
GWAS Ctlgrs794726873
Max Magnitude0
ClinVar
Risk rs794726873(T;T)
Alt rs794726873(T;T)
Reference rs794726873(C;C)
Significance Pathogenic
Disease Osteogenesis imperfecta type I Osteogenesis imperfecta with normal sclerae
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type I Osteogenesis imperfecta with normal sclerae, dominant form
Reversed 1
HGVS NC_000017.10:g.48278784G>A
CLNSRC
CLNACC RCV000173062.1, RCV000173063.1,