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rs72656343

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72656343(G;T)
Make rs72656343(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50186386
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72656343
ebirs72656343
HLIrs72656343
Exacrs72656343
Varsomers72656343
Maprs72656343
PheGenIrs72656343
hapmaprs72656343
1000 genomesrs72656343
hgdprs72656343
ensemblrs72656343
gopubmedrs72656343
geneviewrs72656343
scholarrs72656343
googlers72656343
pharmgkbrs72656343
gwascentralrs72656343
openSNPrs72656343
23andMers72656343
23andMe allrs72656343
SNP Nexus

SNPshotrs72656343
SNPdbers72656343
MSV3drs72656343
GWAS Ctlgrs72656343
Max Magnitude0
OMIM120150
Desc
Variant0053
Relatedalso


ClinVar
Risk rs72656343(T;T)
Alt rs72656343(T;T)
Reference rs72656343(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type 2
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta type 2, thin-bone
Reversed 1
HGVS NC_000017.10:g.48263747C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018876.24,