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rs72645323

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72645323(A;A)
Make rs72645323(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50197027
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72645323
ebirs72645323
HLIrs72645323
Exacrs72645323
Varsomers72645323
Maprs72645323
PheGenIrs72645323
hapmaprs72645323
1000 genomesrs72645323
hgdprs72645323
ensemblrs72645323
gopubmedrs72645323
geneviewrs72645323
scholarrs72645323
googlers72645323
pharmgkbrs72645323
gwascentralrs72645323
openSNPrs72645323
23andMers72645323
23andMe allrs72645323
SNP Nexus

SNPshotrs72645323
SNPdbers72645323
MSV3drs72645323
GWAS Ctlgrs72645323
Max Magnitude0
OMIM120150
Desc
Variant0034
Relatedalso


ClinVar
Risk rs72645323(A;A)
Alt rs72645323(A;A)
Reference rs72645323(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.10:g.48274388C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018857.23,