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rs121912903

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912903(G;T)
Make rs121912903(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position94417796
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs121912903
ebirs121912903
HLIrs121912903
Exacrs121912903
Varsomers121912903
Maprs121912903
PheGenIrs121912903
hapmaprs121912903
1000 genomesrs121912903
hgdprs121912903
ensemblrs121912903
gopubmedrs121912903
geneviewrs121912903
scholarrs121912903
googlers121912903
pharmgkbrs121912903
gwascentralrs121912903
openSNPrs121912903
23andMers121912903
23andMe allrs121912903
SNP Nexus

SNPshotrs121912903
SNPdbers121912903
MSV3drs121912903
GWAS Ctlgrs121912903
Max Magnitude0
OMIM120160
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121912903(T;T)
Alt rs121912903(T;T)
Reference rs121912903(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.94047108G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018783.28,