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rs121909498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909498(C;C)
Make rs121909498(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position102955393
GeneMMP13
is asnp
is mentioned by
dbSNPrs121909498
ebirs121909498
HLIrs121909498
Exacrs121909498
Varsomers121909498
Maprs121909498
PheGenIrs121909498
hapmaprs121909498
1000 genomesrs121909498
hgdprs121909498
ensemblrs121909498
gopubmedrs121909498
geneviewrs121909498
scholarrs121909498
googlers121909498
pharmgkbrs121909498
gwascentralrs121909498
openSNPrs121909498
23andMers121909498
23andMe allrs121909498
SNP Nexus

SNPshotrs121909498
SNPdbers121909498
MSV3drs121909498
GWAS Ctlgrs121909498
Max Magnitude0
OMIM600108
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909498(C;C)
Alt rs121909498(C;C)
Reference rs121909498(T;T)
Significance Pathogenic
Disease Metaphyseal anadysplasia 1
Variation info
Gene MMP13
CLNDBN Metaphyseal anadysplasia 1, autosomal dominant
Reversed 1
HGVS NC_000011.9:g.102826122A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010051.4,