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rs121909499

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909499(C;C)
Make rs121909499(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position102955342
GeneMMP13
is asnp
is mentioned by
dbSNPrs121909499
ebirs121909499
HLIrs121909499
Exacrs121909499
Varsomers121909499
Maprs121909499
PheGenIrs121909499
hapmaprs121909499
1000 genomesrs121909499
hgdprs121909499
ensemblrs121909499
gopubmedrs121909499
geneviewrs121909499
scholarrs121909499
googlers121909499
pharmgkbrs121909499
gwascentralrs121909499
openSNPrs121909499
23andMers121909499
23andMe allrs121909499
SNP Nexus

SNPshotrs121909499
SNPdbers121909499
MSV3drs121909499
GWAS Ctlgrs121909499
Max Magnitude0
OMIM600108
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909499(C;C)
Alt rs121909499(C;C)
Reference rs121909499(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.102826071A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010052.4,