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rs72653178

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653178(A;A)
Make rs72653178(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50188619
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72653178
ebirs72653178
HLIrs72653178
Exacrs72653178
Varsomers72653178
Maprs72653178
PheGenIrs72653178
hapmaprs72653178
1000 genomesrs72653178
hgdprs72653178
ensemblrs72653178
gopubmedrs72653178
geneviewrs72653178
scholarrs72653178
googlers72653178
pharmgkbrs72653178
gwascentralrs72653178
openSNPrs72653178
23andMers72653178
23andMe allrs72653178
SNP Nexus

SNPshotrs72653178
SNPdbers72653178
MSV3drs72653178
GWAS Ctlgrs72653178
Max Magnitude0
OMIM120150
Desc
Variant0048
Relatedalso
ClinVar
Risk rs72653178(A;A)
Alt rs72653178(A;A)
Reference rs72653178(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.48265980C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018871.27,