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rs121912870

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912870(A;A)
Make rs121912870(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47975971
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912870
ebirs121912870
HLIrs121912870
Exacrs121912870
Varsomers121912870
Maprs121912870
PheGenIrs121912870
hapmaprs121912870
1000 genomesrs121912870
hgdprs121912870
ensemblrs121912870
gopubmedrs121912870
geneviewrs121912870
scholarrs121912870
googlers121912870
pharmgkbrs121912870
gwascentralrs121912870
openSNPrs121912870
23andMers121912870
23andMe allrs121912870
SNP Nexus

SNPshotrs121912870
SNPdbers121912870
MSV3drs121912870
GWAS Ctlgrs121912870
Max Magnitude0
OMIM120140
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121912870(A;A)
Alt rs121912870(A;A)
Reference rs121912870(G;G)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia congenita
Variation info
Gene COL2A1
CLNDBN Spondyloepiphyseal dysplasia congenita
Reversed 1
HGVS NC_000012.11:g.48369754C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018905.23,