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rs72653166

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653166(G;T)
Make rs72653166(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50189009
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72653166
ebirs72653166
HLIrs72653166
Exacrs72653166
Varsomers72653166
Maprs72653166
PheGenIrs72653166
hapmaprs72653166
1000 genomesrs72653166
hgdprs72653166
ensemblrs72653166
gopubmedrs72653166
geneviewrs72653166
scholarrs72653166
googlers72653166
pharmgkbrs72653166
gwascentralrs72653166
openSNPrs72653166
23andMers72653166
23andMe allrs72653166
SNP Nexus

SNPshotrs72653166
SNPdbers72653166
MSV3drs72653166
GWAS Ctlgrs72653166
Max Magnitude0
OMIM120150
Desc
Variant0041
Relatedalso


ClinVar
Risk rs72653166(T;T)
Alt rs72653166(T;T)
Reference rs72653166(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48266370C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018864.27,