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rs72656314

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72656314(C;T)
Make rs72656314(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50187486
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72656314
ebirs72656314
HLIrs72656314
Exacrs72656314
Varsomers72656314
Maprs72656314
PheGenIrs72656314
hapmaprs72656314
1000 genomesrs72656314
hgdprs72656314
ensemblrs72656314
gopubmedrs72656314
geneviewrs72656314
scholarrs72656314
googlers72656314
pharmgkbrs72656314
gwascentralrs72656314
openSNPrs72656314
23andMers72656314
23andMe allrs72656314
SNP Nexus

SNPshotrs72656314
SNPdbers72656314
MSV3drs72656314
GWAS Ctlgrs72656314
Max Magnitude0
OMIM120150
Desc
Variant0055
Relatedalso


ClinVar
Risk rs72656314(A,T;A,T)
Alt rs72656314(A,T;A,T)
Reference rs72656314(C;C)
Significance Pathogenic
Disease Osteogenesis imperfecta type I
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type I
Reversed 1
HGVS NC_000017.10:g.48264847G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018878.23,