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rs72656402

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72656402(G;T)
Make rs72656402(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position94410429
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs72656402
ebirs72656402
HLIrs72656402
Exacrs72656402
Varsomers72656402
Maprs72656402
PheGenIrs72656402
hapmaprs72656402
1000 genomesrs72656402
hgdprs72656402
ensemblrs72656402
gopubmedrs72656402
geneviewrs72656402
scholarrs72656402
googlers72656402
pharmgkbrs72656402
gwascentralrs72656402
openSNPrs72656402
23andMers72656402
23andMe allrs72656402
SNP Nexus

SNPshotrs72656402
SNPdbers72656402
MSV3drs72656402
GWAS Ctlgrs72656402
Max Magnitude0
OMIM120160
Desc
Variant0044
Relatedalso


ClinVar
Risk rs72656402(T;T)
Alt rs72656402(T;T)
Reference rs72656402(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type III
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta type III
Reversed 0
HGVS NC_000007.13:g.94039741G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018813.26,