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rs72653136

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653136(A;A)
Make rs72653136(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50190027
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72653136
ebirs72653136
HLIrs72653136
Exacrs72653136
Varsomers72653136
Maprs72653136
PheGenIrs72653136
hapmaprs72653136
1000 genomesrs72653136
hgdprs72653136
ensemblrs72653136
gopubmedrs72653136
geneviewrs72653136
scholarrs72653136
googlers72653136
pharmgkbrs72653136
gwascentralrs72653136
openSNPrs72653136
23andMers72653136
23andMe allrs72653136
SNP Nexus

SNPshotrs72653136
SNPdbers72653136
MSV3drs72653136
GWAS Ctlgrs72653136
Max Magnitude0
OMIM120150
Desc
Variant0008
Relatedalso


ClinVar
Risk rs72653136(A;A)
Alt rs72653136(A;A)
Reference rs72653136(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48267388C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018832.27,