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rs121912900

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912900(A;A)
Make rs121912900(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94425163
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs121912900
ebirs121912900
HLIrs121912900
Exacrs121912900
Varsomers121912900
Maprs121912900
PheGenIrs121912900
hapmaprs121912900
1000 genomesrs121912900
hgdprs121912900
ensemblrs121912900
gopubmedrs121912900
geneviewrs121912900
scholarrs121912900
googlers121912900
pharmgkbrs121912900
gwascentralrs121912900
openSNPrs121912900
23andMers121912900
23andMe allrs121912900
SNP Nexus

SNPshotrs121912900
SNPdbers121912900
MSV3drs121912900
GWAS Ctlgrs121912900
Max Magnitude0
OMIM120160
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912900(A;A)
Alt rs121912900(A;A)
Reference rs121912900(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A2
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 0
HGVS NC_000007.13:g.94054475G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018779.28,