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rs121912875

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912875(G;T)
Make rs121912875(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47979519
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912875
ebirs121912875
HLIrs121912875
Exacrs121912875
Varsomers121912875
Maprs121912875
PheGenIrs121912875
hapmaprs121912875
1000 genomesrs121912875
hgdprs121912875
ensemblrs121912875
gopubmedrs121912875
geneviewrs121912875
scholarrs121912875
googlers121912875
pharmgkbrs121912875
gwascentralrs121912875
openSNPrs121912875
23andMers121912875
23andMe allrs121912875
SNP Nexus

SNPshotrs121912875
SNPdbers121912875
MSV3drs121912875
GWAS Ctlgrs121912875
Max Magnitude0
OMIM120140
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121912875(T;T)
Alt rs121912875(T;T)
Reference rs121912875(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.48373302C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018911.27,