Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503056
rs727503056
FBN1
A 0.700 GeneticVariation CLINVAR In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 12525539

2003
dbSNP: rs727503056
rs727503056
FBN1
A 0.700 GeneticVariation CLINVAR Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. 12068374

2002
dbSNP: rs1441536824
rs1441536824
FBN1
0.010 GeneticVariation BEFREE The ADAMTSL10 gene screen revealed a compound heterozygous variant (c.1586G>A and c.2485T>A) in a family with Weill-Marchesani syndrome (WMS). 25053872

2014
dbSNP: rs769194347
rs769194347
ADAMTSL4 ; ADAMTSL4-AS2
0.010 GeneticVariation BEFREE The ADAMTSL10 gene screen revealed a compound heterozygous variant (c.1586G>A and c.2485T>A) in a family with Weill-Marchesani syndrome (WMS). 25053872

2014
dbSNP: rs121434358
rs121434358
ADAMTS10
0.010 GeneticVariation BEFREE We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G>A; p.Ala25Thr) causing recessive Weill-Marchesani syndrome (WMS). 18567016

2008