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rs121912883

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912883(C;C)
Make rs121912883(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47976043
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912883
ebirs121912883
HLIrs121912883
Exacrs121912883
Varsomers121912883
Maprs121912883
PheGenIrs121912883
hapmaprs121912883
1000 genomesrs121912883
hgdprs121912883
ensemblrs121912883
gopubmedrs121912883
geneviewrs121912883
scholarrs121912883
googlers121912883
pharmgkbrs121912883
gwascentralrs121912883
openSNPrs121912883
23andMers121912883
23andMe allrs121912883
SNP Nexus

SNPshotrs121912883
SNPdbers121912883
MSV3drs121912883
GWAS Ctlgrs121912883
Max Magnitude0
OMIM120140
Desc
Variant0031
Relatedalso
ClinVar
Risk rs121912883(C;C)
Alt rs121912883(C;C)
Reference rs121912883(G;G)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia congenita
Variation info
Gene COL2A1
CLNDBN Spondyloepiphyseal dysplasia congenita
Reversed 1
HGVS NC_000012.11:g.48369826C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018924.27,