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rs121912864

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912864(A;A)
Make rs121912864(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47977373
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912864
ebirs121912864
HLIrs121912864
Exacrs121912864
Varsomers121912864
Maprs121912864
PheGenIrs121912864
hapmaprs121912864
1000 genomesrs121912864
hgdprs121912864
ensemblrs121912864
gopubmedrs121912864
geneviewrs121912864
scholarrs121912864
googlers121912864
pharmgkbrs121912864
gwascentralrs121912864
openSNPrs121912864
23andMers121912864
23andMe allrs121912864
SNP Nexus

SNPshotrs121912864
SNPdbers121912864
MSV3drs121912864
GWAS Ctlgrs121912864
Max Magnitude0
OMIM120140
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912864(A;A)
Alt rs121912864(A;A)
Reference rs121912864(G;G)
Significance Pathogenic
Disease Hypochondrogenesis
Variation info
Gene COL2A1
CLNDBN Hypochondrogenesis
Reversed 1
HGVS NC_000012.11:g.48371156C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018895.27,