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rs387906558

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906558(A;A)
Make rs387906558(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47982892
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs387906558
ebirs387906558
HLIrs387906558
Exacrs387906558
Varsomers387906558
Maprs387906558
PheGenIrs387906558
hapmaprs387906558
1000 genomesrs387906558
hgdprs387906558
ensemblrs387906558
gopubmedrs387906558
geneviewrs387906558
scholarrs387906558
googlers387906558
pharmgkbrs387906558
gwascentralrs387906558
openSNPrs387906558
23andMers387906558
23andMe allrs387906558
SNP Nexus

SNPshotrs387906558
SNPdbers387906558
MSV3drs387906558
GWAS Ctlgrs387906558
Max Magnitude0
ClinVar
Risk rs387906558(A;A)
Alt rs387906558(A;A)
Reference rs387906558(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.48376675C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018937.27,