Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908093
rs121908093
ZMPSTE24
0.800 GeneticVariation UNIPROT Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. 20814950

2010
dbSNP: rs121908095
rs121908095
ZMPSTE24
0.800 GeneticVariation UNIPROT Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. 20814950

2010
dbSNP: rs121908093
rs121908093
ZMPSTE24
0.800 GeneticVariation UNIPROT Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. 18435794

2008
dbSNP: rs121908095
rs121908095
ZMPSTE24
0.800 GeneticVariation UNIPROT Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. 18435794

2008
dbSNP: rs121908093
rs121908093
ZMPSTE24
0.800 GeneticVariation UNIPROT Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. 17152860

2006
dbSNP: rs121908095
rs121908095
ZMPSTE24
0.800 GeneticVariation UNIPROT Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. 17152860

2006
dbSNP: rs121908093
rs121908093
ZMPSTE24
0.800 GeneticVariation UNIPROT Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 12913070

2003
dbSNP: rs121908095
rs121908095
ZMPSTE24
0.800 GeneticVariation UNIPROT Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 12913070

2003
dbSNP: rs121908093
rs121908093
ZMPSTE24
C 0.800 CausalMutation CLINVAR

dbSNP: rs121908095
rs121908095
ZMPSTE24
T 0.800 CausalMutation CLINVAR

dbSNP: rs281875371
rs281875371
ZMPSTE24
0.700 GeneticVariation UNIPROT Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. 20814950

2010
dbSNP: rs281875371
rs281875371
ZMPSTE24
0.700 GeneticVariation UNIPROT Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. 18435794

2008
dbSNP: rs281875371
rs281875371
ZMPSTE24
0.700 GeneticVariation UNIPROT Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. 17152860

2006
dbSNP: rs281875371
rs281875371
ZMPSTE24
0.700 GeneticVariation UNIPROT Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 12913070

2003
dbSNP: rs121908094
rs121908094
ZMPSTE24
T 0.700 CausalMutation CLINVAR

dbSNP: rs137854889
rs137854889
ZMPSTE24
GT 0.700 CausalMutation CLINVAR

dbSNP: rs281875376
rs281875376
ZMPSTE24
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607563
rs267607563
LMNA
0.010 GeneticVariation BEFREE We report a 12-year-old boy with mandibuloacral dysplasia with type B lipodystrophy and a novel homozygous c.1196A>G; p.(Tyr399Cys) mutation in ZMPSTE24. 27410998

2016
dbSNP: rs397517893
rs397517893
LMNA
0.010 GeneticVariation BEFREE We report a 12-year-old boy with mandibuloacral dysplasia with type B lipodystrophy and a novel homozygous c.1196A>G; p.(Tyr399Cys) mutation in ZMPSTE24. 27410998

2016