Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912904

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912904(A;A)
Make rs121912904(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94422967
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs121912904
ebirs121912904
HLIrs121912904
Exacrs121912904
Varsomers121912904
Maprs121912904
PheGenIrs121912904
hapmaprs121912904
1000 genomesrs121912904
hgdprs121912904
ensemblrs121912904
gopubmedrs121912904
geneviewrs121912904
scholarrs121912904
googlers121912904
pharmgkbrs121912904
gwascentralrs121912904
openSNPrs121912904
23andMers121912904
23andMe allrs121912904
SNP Nexus

SNPshotrs121912904
SNPdbers121912904
MSV3drs121912904
GWAS Ctlgrs121912904
Max Magnitude0
OMIM120160
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121912904(A;A)
Alt rs121912904(A;A)
Reference rs121912904(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 0
HGVS NC_000007.13:g.94052279G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018786.26,