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rs140059558

From SNPedia

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Geno Mag Summary
(A;A) 0 common in clinvar
Make rs140059558(A;C)
Make rs140059558(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position102954174
GeneMMP13
is asnp
is mentioned by
dbSNPrs140059558
ebirs140059558
HLIrs140059558
Exacrs140059558
Varsomers140059558
Maprs140059558
PheGenIrs140059558
hapmaprs140059558
1000 genomesrs140059558
hgdprs140059558
ensemblrs140059558
gopubmedrs140059558
geneviewrs140059558
scholarrs140059558
googlers140059558
pharmgkbrs140059558
gwascentralrs140059558
openSNPrs140059558
23andMers140059558
23andMe allrs140059558
SNP Nexus

SNPshotrs140059558
SNPdbers140059558
MSV3drs140059558
GWAS Ctlgrs140059558
Max Magnitude0
ClinVar
Risk rs140059558(C,G;C,G)
Alt rs140059558(C,G;C,G)
Reference rs140059558(A;A)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene MMP13
CLNDBN Metaphyseal chondrodysplasia, Spahr type
Reversed 0
HGVS NC_000011.9:g.102824903A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000162347.3,