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rs369083541

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs369083541(A;A)
Make rs369083541(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position102955289
GeneMMP13
is asnp
is mentioned by
dbSNPrs369083541
ebirs369083541
HLIrs369083541
Exacrs369083541
Varsomers369083541
Maprs369083541
PheGenIrs369083541
hapmaprs369083541
1000 genomesrs369083541
hgdprs369083541
ensemblrs369083541
gopubmedrs369083541
geneviewrs369083541
scholarrs369083541
googlers369083541
pharmgkbrs369083541
gwascentralrs369083541
openSNPrs369083541
23andMers369083541
23andMe allrs369083541
SNP Nexus

SNPshotrs369083541
SNPdbers369083541
MSV3drs369083541
GWAS Ctlgrs369083541
Max Magnitude0
ClinVar
Risk rs369083541(A;A)
Alt rs369083541(A;A)
Reference rs369083541(G;G)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene MMP13
CLNDBN Metaphyseal chondrodysplasia, Spahr type
Reversed 0
HGVS NC_000011.9:g.102826018G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000162348.3,