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rs121912895

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912895(A;G)
Make rs121912895(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47978320
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912895
ebirs121912895
HLIrs121912895
Exacrs121912895
Varsomers121912895
Maprs121912895
PheGenIrs121912895
hapmaprs121912895
1000 genomesrs121912895
hgdprs121912895
ensemblrs121912895
gopubmedrs121912895
geneviewrs121912895
scholarrs121912895
googlers121912895
pharmgkbrs121912895
gwascentralrs121912895
openSNPrs121912895
23andMers121912895
23andMe allrs121912895
SNP Nexus

SNPshotrs121912895
SNPdbers121912895
MSV3drs121912895
GWAS Ctlgrs121912895
Max Magnitude0
OMIM120140
Desc
Variant0047
Relatedalso
ClinVar
Risk rs121912895(G;G)
Alt rs121912895(G;G)
Reference rs121912895(A;A)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia Strudwick type
Variation info
Gene COL2A1
CLNDBN Spondyloepimetaphyseal dysplasia Strudwick type
Reversed 1
HGVS NC_000012.11:g.48372103T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018941.23,