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rs121912911

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912911(C;C)
Make rs121912911(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94426442
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs121912911
dbSNP (classic)rs121912911
ClinGenrs121912911
ebirs121912911
HLIrs121912911
Exacrs121912911
Gnomadrs121912911
Varsomers121912911
LitVarrs121912911
Maprs121912911
PheGenIrs121912911
Biobankrs121912911
1000 genomesrs121912911
hgdprs121912911
ensemblrs121912911
geneviewrs121912911
scholarrs121912911
googlers121912911
pharmgkbrs121912911
gwascentralrs121912911
openSNPrs121912911
23andMers121912911
SNPshotrs121912911
SNPdbers121912911
MSV3drs121912911
GWAS Ctlgrs121912911
Max Magnitude0
OMIM120160
Desc
Variant0037
Relatedalso
ClinVar
Risk rs121912911(C;C)
Alt rs121912911(C;C)
Reference Rs121912911(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.94055754G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018806.25,