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rs121912912

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912912(C;C)
Make rs121912912(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94410466
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs121912912
ebirs121912912
HLIrs121912912
Exacrs121912912
Varsomers121912912
Maprs121912912
PheGenIrs121912912
hapmaprs121912912
1000 genomesrs121912912
hgdprs121912912
ensemblrs121912912
gopubmedrs121912912
geneviewrs121912912
scholarrs121912912
googlers121912912
pharmgkbrs121912912
gwascentralrs121912912
openSNPrs121912912
23andMers121912912
23andMe allrs121912912
SNP Nexus

SNPshotrs121912912
SNPdbers121912912
MSV3drs121912912
GWAS Ctlgrs121912912
Max Magnitude0
OMIM120160
Desc
Variant0050
Relatedalso
ClinVar
Risk rs121912912(C;C)
Alt rs121912912(C;C)
Reference rs121912912(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta with normal sclerae
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta with normal sclerae, dominant form
Reversed 0
HGVS NC_000007.13:g.94039778G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018819.29,