Have questions? Visit https://www.reddit.com/r/SNPedia

rs72653131

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653131(A;A)
Make rs72653131(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50190045
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72653131
ebirs72653131
HLIrs72653131
Exacrs72653131
Varsomers72653131
Maprs72653131
PheGenIrs72653131
hapmaprs72653131
1000 genomesrs72653131
hgdprs72653131
ensemblrs72653131
gopubmedrs72653131
geneviewrs72653131
scholarrs72653131
googlers72653131
pharmgkbrs72653131
gwascentralrs72653131
openSNPrs72653131
23andMers72653131
23andMe allrs72653131
SNP Nexus

SNPshotrs72653131
SNPdbers72653131
MSV3drs72653131
GWAS Ctlgrs72653131
Max Magnitude0
OMIM120150
Desc
Variant0049
Relatedalso


ClinVar
Risk rs72653131(A;A)
Alt rs72653131(A;A)
Reference rs72653131(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.48267406C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018872.23,