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rs121912908

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912908(C;C)
Make rs121912908(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94420233
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs121912908
ebirs121912908
HLIrs121912908
Exacrs121912908
Varsomers121912908
Maprs121912908
PheGenIrs121912908
hapmaprs121912908
1000 genomesrs121912908
hgdprs121912908
ensemblrs121912908
gopubmedrs121912908
geneviewrs121912908
scholarrs121912908
googlers121912908
pharmgkbrs121912908
gwascentralrs121912908
openSNPrs121912908
23andMers121912908
23andMe allrs121912908
SNP Nexus

SNPshotrs121912908
SNPdbers121912908
MSV3drs121912908
GWAS Ctlgrs121912908
Max Magnitude0
OMIM120160
Desc
Variant0025
Relatedalso
ClinVar
Risk rs121912908(C;C)
Alt rs121912908(C;C)
Reference rs121912908(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 0
HGVS NC_000007.13:g.94049545G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018795.28,