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rs121912899

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912899(G;T)
Make rs121912899(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47985771
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912899
ebirs121912899
HLIrs121912899
Exacrs121912899
Varsomers121912899
Maprs121912899
PheGenIrs121912899
hapmaprs121912899
1000 genomesrs121912899
hgdprs121912899
ensemblrs121912899
gopubmedrs121912899
geneviewrs121912899
scholarrs121912899
googlers121912899
pharmgkbrs121912899
gwascentralrs121912899
openSNPrs121912899
23andMers121912899
23andMe allrs121912899
SNP Nexus

SNPshotrs121912899
SNPdbers121912899
MSV3drs121912899
GWAS Ctlgrs121912899
Max Magnitude0
OMIM120140
Desc
Variant0053
Relatedalso
ClinVar
Risk rs121912899(T;T)
Alt rs121912899(T;T)
Reference rs121912899(G;G)
Significance Pathogenic
Disease Achondrogenesis
Variation info
Gene COL2A1
CLNDBN Achondrogenesis, type II
Reversed 1
HGVS NC_000012.11:g.48379554C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022483.27,