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rs121912891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912891(A;A)
Make rs121912891(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47976052
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912891
ebirs121912891
HLIrs121912891
Exacrs121912891
Varsomers121912891
Maprs121912891
PheGenIrs121912891
hapmaprs121912891
1000 genomesrs121912891
hgdprs121912891
ensemblrs121912891
gopubmedrs121912891
geneviewrs121912891
scholarrs121912891
googlers121912891
pharmgkbrs121912891
gwascentralrs121912891
openSNPrs121912891
23andMers121912891
23andMe allrs121912891
SNP Nexus

SNPshotrs121912891
SNPdbers121912891
MSV3drs121912891
GWAS Ctlgrs121912891
Max Magnitude0
OMIM120140
Desc
Variant0043
Relatedalso
ClinVar
Risk rs121912891(A;A)
Alt rs121912891(A;A)
Reference rs121912891(G;G)
Significance Pathogenic
Disease Avascular necrosis of the femoral head Coxa plana
Variation info
Gene COL2A1
CLNDBN Avascular necrosis of the femoral head, primary Coxa plana
Reversed 1
HGVS NC_000012.11:g.48369835C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018935.27, RCV000018936.27,