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rs72653152

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72653152(G;T)
Make rs72653152(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50189520
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72653152
dbSNP (old)rs72653152
ClinGenrs72653152
ebirs72653152
HLIrs72653152
Exacrs72653152
Gnomadrs72653152
Varsomers72653152
Maprs72653152
PheGenIrs72653152
Biobankrs72653152
1000 genomesrs72653152
hgdprs72653152
ensemblrs72653152
gopubmedrs72653152
geneviewrs72653152
scholarrs72653152
googlers72653152
pharmgkbrs72653152
gwascentralrs72653152
openSNPrs72653152
23andMers72653152
23andMe allrs72653152
SNP Nexus

SNPshotrs72653152
SNPdbers72653152
MSV3drs72653152
GWAS Ctlgrs72653152
Max Magnitude0
OMIM120150
Desc
Variant0010
Relatedalso


ClinVar
Risk rs72653152(T;T)
Alt rs72653152(T;T)
Reference Rs72653152(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48266881C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018834.27,