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rs121912867

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912867(A;A)
Make rs121912867(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47982142
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912867
ebirs121912867
HLIrs121912867
Exacrs121912867
Varsomers121912867
Maprs121912867
PheGenIrs121912867
hapmaprs121912867
1000 genomesrs121912867
hgdprs121912867
ensemblrs121912867
gopubmedrs121912867
geneviewrs121912867
scholarrs121912867
googlers121912867
pharmgkbrs121912867
gwascentralrs121912867
openSNPrs121912867
23andMers121912867
23andMe allrs121912867
SNP Nexus

SNPshotrs121912867
SNPdbers121912867
MSV3drs121912867
GWAS Ctlgrs121912867
Max Magnitude0
OMIM120140
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912867(A;A)
Alt rs121912867(A;A)
Reference rs121912867(G;G)
Significance Pathogenic
Disease Hypochondrogenesis
Variation info
Gene COL2A1
CLNDBN Hypochondrogenesis
Reversed 1
HGVS NC_000012.11:g.48375925C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018901.27,