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rs121912871

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912871(A;A)
Make rs121912871(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47989769
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912871
ebirs121912871
HLIrs121912871
Exacrs121912871
Varsomers121912871
Maprs121912871
PheGenIrs121912871
hapmaprs121912871
1000 genomesrs121912871
hgdprs121912871
ensemblrs121912871
gopubmedrs121912871
geneviewrs121912871
scholarrs121912871
googlers121912871
pharmgkbrs121912871
gwascentralrs121912871
openSNPrs121912871
23andMers121912871
23andMe allrs121912871
SNP Nexus

SNPshotrs121912871
SNPdbers121912871
MSV3drs121912871
GWAS Ctlgrs121912871
Max Magnitude0
OMIM120140
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121912871(A;A)
Alt rs121912871(A;A)
Reference rs121912871(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.48383552C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018907.27,