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rs121912876

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912876(C;T)
Make rs121912876(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47994041
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912876
ebirs121912876
HLIrs121912876
Exacrs121912876
Varsomers121912876
Maprs121912876
PheGenIrs121912876
hapmaprs121912876
1000 genomesrs121912876
hgdprs121912876
ensemblrs121912876
gopubmedrs121912876
geneviewrs121912876
scholarrs121912876
googlers121912876
pharmgkbrs121912876
gwascentralrs121912876
openSNPrs121912876
23andMers121912876
23andMe allrs121912876
SNP Nexus

SNPshotrs121912876
SNPdbers121912876
MSV3drs121912876
GWAS Ctlgrs121912876
Max Magnitude0
OMIM120140
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121912876(T;T)
Alt rs121912876(T;T)
Reference rs121912876(C;C)
Significance Pathogenic
Disease Czech dysplasia metatarsal type
Variation info
Gene COL2A1
CLNDBN Czech dysplasia metatarsal type
Reversed 1
HGVS NC_000012.11:g.48387824G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018912.27,