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rs121912910

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912910(A;A)
Make rs121912910(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94413083
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs121912910
ebirs121912910
HLIrs121912910
Exacrs121912910
Varsomers121912910
Maprs121912910
PheGenIrs121912910
hapmaprs121912910
1000 genomesrs121912910
hgdprs121912910
ensemblrs121912910
gopubmedrs121912910
geneviewrs121912910
scholarrs121912910
googlers121912910
pharmgkbrs121912910
gwascentralrs121912910
openSNPrs121912910
23andMers121912910
23andMe allrs121912910
SNP Nexus

SNPshotrs121912910
SNPdbers121912910
MSV3drs121912910
GWAS Ctlgrs121912910
Max Magnitude0
OMIM120160
Desc
Variant0034
Relatedalso
ClinVar
Risk rs121912910(A;A)
Alt rs121912910(A;A)
Reference rs121912910(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 0
HGVS NC_000007.13:g.94042395G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018803.28,