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rs121912886

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912886(C;T)
Make rs121912886(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47974090
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912886
ebirs121912886
HLIrs121912886
Exacrs121912886
Varsomers121912886
Maprs121912886
PheGenIrs121912886
hapmaprs121912886
1000 genomesrs121912886
hgdprs121912886
ensemblrs121912886
gopubmedrs121912886
geneviewrs121912886
scholarrs121912886
googlers121912886
pharmgkbrs121912886
gwascentralrs121912886
openSNPrs121912886
23andMers121912886
23andMe allrs121912886
SNP Nexus

SNPshotrs121912886
SNPdbers121912886
MSV3drs121912886
GWAS Ctlgrs121912886
Max Magnitude0
OMIM120140
Desc
Variant0035
Relatedalso
ClinVar
Risk rs121912886(A,T;A,T)
Alt rs121912886(A,T;A,T)
Reference rs121912886(C;C)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia congenita Spondyloperipheral dysplasia
Variation info
Gene COL2A1
CLNDBN Spondyloepiphyseal dysplasia congenita Spondyloperipheral dysplasia
Reversed 1
HGVS NC_000012.11:g.48367873G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018928.23, RCV000190574.1,