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rs121912879

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912879(C;C)
Make rs121912879(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47980017
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912879
ebirs121912879
HLIrs121912879
Exacrs121912879
Varsomers121912879
Maprs121912879
PheGenIrs121912879
hapmaprs121912879
1000 genomesrs121912879
hgdprs121912879
ensemblrs121912879
gopubmedrs121912879
geneviewrs121912879
scholarrs121912879
googlers121912879
pharmgkbrs121912879
gwascentralrs121912879
openSNPrs121912879
23andMers121912879
23andMe allrs121912879
SNP Nexus

SNPshotrs121912879
SNPdbers121912879
MSV3drs121912879
GWAS Ctlgrs121912879
Max Magnitude0
OMIM120140
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121912879(C;C)
Alt rs121912879(C;C)
Reference rs121912879(G;G)
Significance Pathogenic
Disease Achondrogenesis
Variation info
Gene COL2A1
CLNDBN Achondrogenesis, type II
Reversed 1
HGVS NC_000012.11:g.48373800C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022480.27,