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rs121908093

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908093(C;C)
Make rs121908093(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40285988
GeneZMPSTE24
is asnp
is mentioned by
dbSNPrs121908093
ebirs121908093
HLIrs121908093
Exacrs121908093
Varsomers121908093
Maprs121908093
PheGenIrs121908093
hapmaprs121908093
1000 genomesrs121908093
hgdprs121908093
ensemblrs121908093
gopubmedrs121908093
geneviewrs121908093
scholarrs121908093
googlers121908093
pharmgkbrs121908093
gwascentralrs121908093
openSNPrs121908093
23andMers121908093
23andMe allrs121908093
SNP Nexus

SNPshotrs121908093
SNPdbers121908093
MSV3drs121908093
GWAS Ctlgrs121908093
Max Magnitude0
OMIM606480
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908093(C;C)
Alt rs121908093(C;C)
Reference rs121908093(T;T)
Significance Pathogenic
Disease Mandibuloacral dysplasia with type B lipodystrophy not provided
Variation info
Gene ZMPSTE24
CLNDBN Mandibuloacral dysplasia with type B lipodystrophy not provided
Reversed 0
HGVS NC_000001.10:g.40751660T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004493.3, RCV000128719.1,


[PMID 12913070] Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.