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rs66523073

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66523073(A;A)
Make rs66523073(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50188777
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs66523073
ebirs66523073
HLIrs66523073
Exacrs66523073
Varsomers66523073
Maprs66523073
PheGenIrs66523073
hapmaprs66523073
1000 genomesrs66523073
hgdprs66523073
ensemblrs66523073
gopubmedrs66523073
geneviewrs66523073
scholarrs66523073
googlers66523073
pharmgkbrs66523073
gwascentralrs66523073
openSNPrs66523073
23andMers66523073
23andMe allrs66523073
SNP Nexus

SNPshotrs66523073
SNPdbers66523073
MSV3drs66523073
GWAS Ctlgrs66523073
Max Magnitude0
OMIM120150
Desc
Variant0013
Relatedalso


ClinVar
Risk rs66523073(A;A)
Alt rs66523073(A;A)
Reference rs66523073(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type III
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type III
Reversed 1
HGVS NC_000017.10:g.48266138C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018837.27,