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rs121912874

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912874(C;T)
Make rs121912874(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47978329
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912874
ebirs121912874
HLIrs121912874
Exacrs121912874
Varsomers121912874
Maprs121912874
PheGenIrs121912874
hapmaprs121912874
1000 genomesrs121912874
hgdprs121912874
ensemblrs121912874
gopubmedrs121912874
geneviewrs121912874
scholarrs121912874
googlers121912874
pharmgkbrs121912874
gwascentralrs121912874
openSNPrs121912874
23andMers121912874
23andMe allrs121912874
SNP Nexus

SNPshotrs121912874
SNPdbers121912874
MSV3drs121912874
GWAS Ctlgrs121912874
Max Magnitude0
OMIM120140
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121912874(T;T)
Alt rs121912874(T;T)
Reference rs121912874(C;C)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia congenita
Variation info
Gene COL2A1
CLNDBN Spondyloepiphyseal dysplasia congenita
Reversed 1
HGVS NC_000012.11:g.48372112G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018910.27,