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rs72656334

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72656334(G;T)
Make rs72656334(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50186871
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72656334
ebirs72656334
HLIrs72656334
Exacrs72656334
Varsomers72656334
Maprs72656334
PheGenIrs72656334
hapmaprs72656334
1000 genomesrs72656334
hgdprs72656334
ensemblrs72656334
gopubmedrs72656334
geneviewrs72656334
scholarrs72656334
googlers72656334
pharmgkbrs72656334
gwascentralrs72656334
openSNPrs72656334
23andMers72656334
23andMe allrs72656334
SNP Nexus

SNPshotrs72656334
SNPdbers72656334
MSV3drs72656334
GWAS Ctlgrs72656334
Max Magnitude0
OMIM120150
Desc
Variant0021
Relatedalso


ClinVar
Risk rs72656334(T;T)
Alt rs72656334(T;T)
Reference rs72656334(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta
Reversed 1
HGVS NC_000017.11:g.50186871C>A
CLNSRC ClinVar OMIM Allelic Variant
CLNACC RCV000018845.27,