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rs121912892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912892(A;A)
Make rs121912892(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47981829
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912892
ebirs121912892
HLIrs121912892
Exacrs121912892
Varsomers121912892
Maprs121912892
PheGenIrs121912892
hapmaprs121912892
1000 genomesrs121912892
hgdprs121912892
ensemblrs121912892
gopubmedrs121912892
geneviewrs121912892
scholarrs121912892
googlers121912892
pharmgkbrs121912892
gwascentralrs121912892
openSNPrs121912892
23andMers121912892
23andMe allrs121912892
SNP Nexus

SNPshotrs121912892
SNPdbers121912892
MSV3drs121912892
GWAS Ctlgrs121912892
Max Magnitude0
OMIM120140
Desc
Variant0044
Relatedalso
ClinVar
Risk rs121912892(A;A)
Alt rs121912892(A;A)
Reference rs121912892(G;G)
Significance Pathogenic
Disease Avascular necrosis of the femoral head
Variation info
Gene COL2A1
CLNDBN Avascular necrosis of the femoral head, primary
Reversed 1
HGVS NC_000012.11:g.48375612C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018937.26,