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rs72653137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653137(A;A)
Make rs72653137(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50190008
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72653137
ebirs72653137
HLIrs72653137
Exacrs72653137
Varsomers72653137
Maprs72653137
PheGenIrs72653137
hapmaprs72653137
1000 genomesrs72653137
hgdprs72653137
ensemblrs72653137
gopubmedrs72653137
geneviewrs72653137
scholarrs72653137
googlers72653137
pharmgkbrs72653137
gwascentralrs72653137
openSNPrs72653137
23andMers72653137
23andMe allrs72653137
SNP Nexus

SNPshotrs72653137
SNPdbers72653137
MSV3drs72653137
GWAS Ctlgrs72653137
Max Magnitude0
OMIM120150
Desc
Variant0007
Relatedalso


ClinVar
Risk rs72653137(A;A)
Alt rs72653137(A;A)
Reference rs72653137(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48267369C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018831.26,