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rs121912882

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912882(C;T)
Make rs121912882(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47979534
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912882
ebirs121912882
HLIrs121912882
Exacrs121912882
Varsomers121912882
Maprs121912882
PheGenIrs121912882
hapmaprs121912882
1000 genomesrs121912882
hgdprs121912882
ensemblrs121912882
gopubmedrs121912882
geneviewrs121912882
scholarrs121912882
googlers121912882
pharmgkbrs121912882
gwascentralrs121912882
openSNPrs121912882
23andMers121912882
23andMe allrs121912882
SNP Nexus

SNPshotrs121912882
SNPdbers121912882
MSV3drs121912882
GWAS Ctlgrs121912882
Max Magnitude0
OMIM120140
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121912882(T;T)
Alt rs121912882(T;T)
Reference rs121912882(C;C)
Significance Pathogenic
Disease Epiphyseal dysplasia
Variation info
Gene COL2A1
CLNDBN Epiphyseal dysplasia, multiple, with myopia and conductive deafness
Reversed 1
HGVS NC_000012.11:g.48373317G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018922.27,