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rs121912868

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912868(A;A)
Make rs121912868(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47977607
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912868
ebirs121912868
HLIrs121912868
Exacrs121912868
Varsomers121912868
Maprs121912868
PheGenIrs121912868
hapmaprs121912868
1000 genomesrs121912868
hgdprs121912868
ensemblrs121912868
gopubmedrs121912868
geneviewrs121912868
scholarrs121912868
googlers121912868
pharmgkbrs121912868
gwascentralrs121912868
openSNPrs121912868
23andMers121912868
23andMe allrs121912868
SNP Nexus

SNPshotrs121912868
SNPdbers121912868
MSV3drs121912868
GWAS Ctlgrs121912868
Max Magnitude0
OMIM120140
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121912868(A;A)
Alt rs121912868(A;A)
Reference rs121912868(G;G)
Significance Pathogenic
Disease Hypochondrogenesis
Variation info
Gene COL2A1
CLNDBN Hypochondrogenesis
Reversed 1
HGVS NC_000012.11:g.48371390C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018903.23,