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rs121909497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909497(C;C)
Make rs121909497(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position102955390
GeneMMP13
is asnp
is mentioned by
dbSNPrs121909497
ebirs121909497
HLIrs121909497
Exacrs121909497
Varsomers121909497
Maprs121909497
PheGenIrs121909497
hapmaprs121909497
1000 genomesrs121909497
hgdprs121909497
ensemblrs121909497
gopubmedrs121909497
geneviewrs121909497
scholarrs121909497
googlers121909497
pharmgkbrs121909497
gwascentralrs121909497
openSNPrs121909497
23andMers121909497
23andMe allrs121909497
SNP Nexus

SNPshotrs121909497
SNPdbers121909497
MSV3drs121909497
GWAS Ctlgrs121909497
Max Magnitude0
OMIM600108
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909497(C;C)
Alt rs121909497(C;C)
Reference rs121909497(T;T)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene MMP13
CLNDBN Spondyloepimetaphyseal dysplasia, Missouri type
Reversed 1
HGVS NC_000011.9:g.102826119A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010050.2,