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rs72654797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72654797(A;A)
Make rs72654797(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50188555
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72654797
ebirs72654797
HLIrs72654797
Exacrs72654797
Varsomers72654797
Maprs72654797
PheGenIrs72654797
hapmaprs72654797
1000 genomesrs72654797
hgdprs72654797
ensemblrs72654797
gopubmedrs72654797
geneviewrs72654797
scholarrs72654797
googlers72654797
pharmgkbrs72654797
gwascentralrs72654797
openSNPrs72654797
23andMers72654797
23andMe allrs72654797
SNP Nexus

SNPshotrs72654797
SNPdbers72654797
MSV3drs72654797
GWAS Ctlgrs72654797
Max Magnitude0
OMIM120150
Desc
Variant0015
Relatedalso


ClinVar
Risk rs72654797(A;A)
Alt rs72654797(A;A)
Reference rs72654797(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48265916C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018839.27,