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rs121912902

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912902(A;A)
Make rs121912902(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94424363
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs121912902
ebirs121912902
HLIrs121912902
Exacrs121912902
Varsomers121912902
Maprs121912902
PheGenIrs121912902
hapmaprs121912902
1000 genomesrs121912902
hgdprs121912902
ensemblrs121912902
gopubmedrs121912902
geneviewrs121912902
scholarrs121912902
googlers121912902
pharmgkbrs121912902
gwascentralrs121912902
openSNPrs121912902
23andMers121912902
23andMe allrs121912902
SNP Nexus

SNPshotrs121912902
SNPdbers121912902
MSV3drs121912902
GWAS Ctlgrs121912902
Max Magnitude0
OMIM120160
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121912902(A;A)
Alt rs121912902(A;A)
Reference rs121912902(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 0
HGVS NC_000007.13:g.94053675G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018782.24,