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rs72667037

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72667037(G;T)
Make rs72667037(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50197767
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72667037
ebirs72667037
HLIrs72667037
Exacrs72667037
Varsomers72667037
Maprs72667037
PheGenIrs72667037
hapmaprs72667037
1000 genomesrs72667037
hgdprs72667037
ensemblrs72667037
gopubmedrs72667037
geneviewrs72667037
scholarrs72667037
googlers72667037
pharmgkbrs72667037
gwascentralrs72667037
openSNPrs72667037
23andMers72667037
23andMe allrs72667037
SNP Nexus

SNPshotrs72667037
SNPdbers72667037
MSV3drs72667037
GWAS Ctlgrs72667037
Max Magnitude0
OMIM120150
Desc
Variant0038
Relatedalso


ClinVar
Risk rs72667037(T;T)
Alt rs72667037(T;T)
Reference rs72667037(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type 1
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type 1, mild
Reversed 1
HGVS NC_000017.10:g.48275128C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018861.28,