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rs72645331

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72645331(G;T)
Make rs72645331(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50196661
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72645331
ebirs72645331
HLIrs72645331
Exacrs72645331
Varsomers72645331
Maprs72645331
PheGenIrs72645331
hapmaprs72645331
1000 genomesrs72645331
hgdprs72645331
ensemblrs72645331
gopubmedrs72645331
geneviewrs72645331
scholarrs72645331
googlers72645331
pharmgkbrs72645331
gwascentralrs72645331
openSNPrs72645331
23andMers72645331
23andMe allrs72645331
SNP Nexus

SNPshotrs72645331
SNPdbers72645331
MSV3drs72645331
GWAS Ctlgrs72645331
Max Magnitude0
OMIM120150
Desc
Variant0002
Relatedalso


ClinVar
Risk rs72645331(T;T)
Alt rs72645331(T;T)
Reference rs72645331(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type I
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type I
Reversed 1
HGVS NC_000017.10:g.48274022C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018826.27,