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rs72653169

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653169(A;A)
Make rs72653169(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50188920
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72653169
ebirs72653169
HLIrs72653169
Exacrs72653169
Varsomers72653169
Maprs72653169
PheGenIrs72653169
hapmaprs72653169
1000 genomesrs72653169
hgdprs72653169
ensemblrs72653169
gopubmedrs72653169
geneviewrs72653169
scholarrs72653169
googlers72653169
pharmgkbrs72653169
gwascentralrs72653169
openSNPrs72653169
23andMers72653169
23andMe allrs72653169
SNP Nexus

SNPshotrs72653169
SNPdbers72653169
MSV3drs72653169
GWAS Ctlgrs72653169
Max Magnitude0
OMIM120150
Desc
Variant0012
Relatedalso


ClinVar
Risk rs72653169(A;A)
Alt rs72653169(A;A)
Reference rs72653169(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta with normal sclerae
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta with normal sclerae, dominant form
Reversed 1
HGVS NC_000017.10:g.48266281C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018836.27,