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rs121909500

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909500(A;A)
Make rs121909500(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position102952117
GeneMMP13
is asnp
is mentioned by
dbSNPrs121909500
ebirs121909500
HLIrs121909500
Exacrs121909500
Varsomers121909500
Maprs121909500
PheGenIrs121909500
hapmaprs121909500
1000 genomesrs121909500
hgdprs121909500
ensemblrs121909500
gopubmedrs121909500
geneviewrs121909500
scholarrs121909500
googlers121909500
pharmgkbrs121909500
gwascentralrs121909500
openSNPrs121909500
23andMers121909500
23andMe allrs121909500
SNP Nexus

SNPshotrs121909500
SNPdbers121909500
MSV3drs121909500
GWAS Ctlgrs121909500
Max Magnitude0
OMIM600108
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909500(A;A)
Alt rs121909500(A;A)
Reference rs121909500(C;C)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene MMP13
CLNDBN Metaphyseal chondrodysplasia, Spahr type
Reversed 1
HGVS NC_000011.9:g.102822846G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010053.5,