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rs72651657

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72651657(G;T)
Make rs72651657(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50190869
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72651657
ebirs72651657
HLIrs72651657
Exacrs72651657
Varsomers72651657
Maprs72651657
PheGenIrs72651657
hapmaprs72651657
1000 genomesrs72651657
hgdprs72651657
ensemblrs72651657
gopubmedrs72651657
geneviewrs72651657
scholarrs72651657
googlers72651657
pharmgkbrs72651657
gwascentralrs72651657
openSNPrs72651657
23andMers72651657
23andMe allrs72651657
SNP Nexus

SNPshotrs72651657
SNPdbers72651657
MSV3drs72651657
GWAS Ctlgrs72651657
Max Magnitude0
OMIM120150
Desc
Variant0056
Relatedalso


ClinVar
Risk rs72651657(T;T)
Alt rs72651657(T;T)
Reference rs72651657(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48268230C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018879.23,