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rs72653154

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653154(G;T)
Make rs72653154(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50189430
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72653154
ebirs72653154
HLIrs72653154
Exacrs72653154
Varsomers72653154
Maprs72653154
PheGenIrs72653154
hapmaprs72653154
1000 genomesrs72653154
hgdprs72653154
ensemblrs72653154
gopubmedrs72653154
geneviewrs72653154
scholarrs72653154
googlers72653154
pharmgkbrs72653154
gwascentralrs72653154
openSNPrs72653154
23andMers72653154
23andMe allrs72653154
SNP Nexus

SNPshotrs72653154
SNPdbers72653154
MSV3drs72653154
GWAS Ctlgrs72653154
Max Magnitude0
OMIM120150
Desc
Variant0011
Relatedalso


ClinVar
Risk rs72653154(T;T)
Alt rs72653154(T;T)
Reference rs72653154(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48266791C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018835.27,