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rs121912880

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912880(G;T)
Make rs121912880(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47986353
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912880
ebirs121912880
HLIrs121912880
Exacrs121912880
Varsomers121912880
Maprs121912880
PheGenIrs121912880
hapmaprs121912880
1000 genomesrs121912880
hgdprs121912880
ensemblrs121912880
gopubmedrs121912880
geneviewrs121912880
scholarrs121912880
googlers121912880
pharmgkbrs121912880
gwascentralrs121912880
openSNPrs121912880
23andMers121912880
23andMe allrs121912880
SNP Nexus

SNPshotrs121912880
SNPdbers121912880
MSV3drs121912880
GWAS Ctlgrs121912880
Max Magnitude0
OMIM120140
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121912880(T;T)
Alt rs121912880(T;T)
Reference rs121912880(G;G)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia Strudwick type Spondyloepiphyseal dysplasia congenita
Variation info
Gene COL2A1
CLNDBN Spondyloepimetaphyseal dysplasia Strudwick type Spondyloepiphyseal dysplasia congenita
Reversed 1
HGVS NC_000012.11:g.48380136C>A; NC_000012.11:g.48380136C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018920.27, RCV000176384.1, RCV000176385.1,