Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853317
rs137853317
FLNA
A 0.700 GeneticVariation CLINVAR A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 17264970

2007
dbSNP: rs137853317
rs137853317
FLNA
A 0.700 GeneticVariation CLINVAR Molecular pathology of filamin A: diverse phenotypes, many functions. 15194946

2004
dbSNP: rs137853317
rs137853317
FLNA
A 0.700 GeneticVariation CLINVAR Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583

2003