Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912881

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912881(G;T)
Make rs121912881(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47986388
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912881
ebirs121912881
HLIrs121912881
Exacrs121912881
Varsomers121912881
Maprs121912881
PheGenIrs121912881
hapmaprs121912881
1000 genomesrs121912881
hgdprs121912881
ensemblrs121912881
gopubmedrs121912881
geneviewrs121912881
scholarrs121912881
googlers121912881
pharmgkbrs121912881
gwascentralrs121912881
openSNPrs121912881
23andMers121912881
23andMe allrs121912881
SNP Nexus

SNPshotrs121912881
SNPdbers121912881
MSV3drs121912881
GWAS Ctlgrs121912881
Max Magnitude0
OMIM120140
Desc
Variant0028
Relatedalso
ClinVar
Risk rs121912881(T;T)
Alt rs121912881(T;T)
Reference rs121912881(G;G)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia Strudwick type
Variation info
Gene COL2A1
CLNDBN Spondyloepimetaphyseal dysplasia Strudwick type
Reversed 1
HGVS NC_000012.11:g.48380171C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018921.27,