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rs121912865

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912865(C;T)
Make rs121912865(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47982886
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912865
ebirs121912865
HLIrs121912865
Exacrs121912865
Varsomers121912865
Maprs121912865
PheGenIrs121912865
hapmaprs121912865
1000 genomesrs121912865
hgdprs121912865
ensemblrs121912865
gopubmedrs121912865
geneviewrs121912865
scholarrs121912865
googlers121912865
pharmgkbrs121912865
gwascentralrs121912865
openSNPrs121912865
23andMers121912865
23andMe allrs121912865
SNP Nexus

SNPshotrs121912865
SNPdbers121912865
MSV3drs121912865
GWAS Ctlgrs121912865
Max Magnitude0
OMIM120140
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912865(T;T)
Alt rs121912865(T;T)
Reference rs121912865(C;C)
Significance Pathogenic
Disease Osteoarthritis with mild chondrodysplasia
Variation info
Gene COL2A1
CLNDBN Osteoarthritis with mild chondrodysplasia
Reversed 1
HGVS NC_000012.11:g.48376669G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018896.28,