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rs72648363

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72648363(C;C)
Make rs72648363(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50194005
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72648363
ebirs72648363
HLIrs72648363
Exacrs72648363
Varsomers72648363
Maprs72648363
PheGenIrs72648363
hapmaprs72648363
1000 genomesrs72648363
hgdprs72648363
ensemblrs72648363
gopubmedrs72648363
geneviewrs72648363
scholarrs72648363
googlers72648363
pharmgkbrs72648363
gwascentralrs72648363
openSNPrs72648363
23andMers72648363
23andMe allrs72648363
SNP Nexus

SNPshotrs72648363
SNPdbers72648363
MSV3drs72648363
GWAS Ctlgrs72648363
Max Magnitude0
OMIM120150
Desc
Variant0004
Relatedalso
ClinVar
Risk rs72648363(C;C)
Alt rs72648363(C;C)
Reference rs72648363(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48271366C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018828.27,