Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853316
rs137853316
FLNA
0.710 GeneticVariation UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221

2016
dbSNP: rs137853316
rs137853316
FLNA
0.710 GeneticVariation BEFREE We report on a novel de novo mutation 5182G --> T in exon 31 of the FLNA gene in a girl with manifestations of FMD and OPD1. 16596676

2006
dbSNP: rs137853316
rs137853316
FLNA
0.710 GeneticVariation UNIPROT We report on a novel de novo mutation 5182G --> T in exon 31 of the FLNA gene in a girl with manifestations of FMD and OPD1. 16596676

2006
dbSNP: rs137853316
rs137853316
FLNA
0.710 GeneticVariation UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583

2003