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rs121912905

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912905(G;T)
Make rs121912905(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position94408806
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs121912905
ebirs121912905
HLIrs121912905
Exacrs121912905
Varsomers121912905
Maprs121912905
PheGenIrs121912905
hapmaprs121912905
1000 genomesrs121912905
hgdprs121912905
ensemblrs121912905
gopubmedrs121912905
geneviewrs121912905
scholarrs121912905
googlers121912905
pharmgkbrs121912905
gwascentralrs121912905
openSNPrs121912905
23andMers121912905
23andMe allrs121912905
SNP Nexus

SNPshotrs121912905
SNPdbers121912905
MSV3drs121912905
GWAS Ctlgrs121912905
Max Magnitude0
OMIM120160
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121912905(T;T)
Alt rs121912905(T;T)
Reference rs121912905(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.94038118G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018787.29,