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rs72656324

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72656324(G;T)
Make rs72656324(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50187050
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72656324
ebirs72656324
HLIrs72656324
Exacrs72656324
Varsomers72656324
Maprs72656324
PheGenIrs72656324
hapmaprs72656324
1000 genomesrs72656324
hgdprs72656324
ensemblrs72656324
gopubmedrs72656324
geneviewrs72656324
scholarrs72656324
googlers72656324
pharmgkbrs72656324
gwascentralrs72656324
openSNPrs72656324
23andMers72656324
23andMe allrs72656324
SNP Nexus

SNPshotrs72656324
SNPdbers72656324
MSV3drs72656324
GWAS Ctlgrs72656324
Max Magnitude0
OMIM120150
Desc
Variant0018
Relatedalso


ClinVar
Risk rs72656324(T;T)
Alt rs72656324(T;T)
Reference rs72656324(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48264411C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018842.27,