Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853314
rs137853314
FLNA
0.810 GeneticVariation UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221

2016
dbSNP: rs137853314
rs137853314
FLNA
0.810 GeneticVariation UNIPROT We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein. 15940695

2005
dbSNP: rs137853314
rs137853314
FLNA
0.810 GeneticVariation BEFREE We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein. 15940695

2005
dbSNP: rs137853314
rs137853314
FLNA
0.810 GeneticVariation UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583

2003
dbSNP: rs137853314
rs137853314
FLNA
A 0.810 CausalMutation CLINVAR

dbSNP: rs137853317
rs137853317
FLNA
0.800 GeneticVariation UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221

2016
dbSNP: rs28935469
rs28935469
FLNA
0.800 GeneticVariation UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221

2016
dbSNP: rs137853317
rs137853317
FLNA
0.800 GeneticVariation UNIPROT A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. 15940695

2005
dbSNP: rs28935469
rs28935469
FLNA
0.800 GeneticVariation UNIPROT A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. 15940695

2005
dbSNP: rs137853317
rs137853317
FLNA
0.800 GeneticVariation UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583

2003
dbSNP: rs28935469
rs28935469
FLNA
0.800 GeneticVariation UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583

2003
dbSNP: rs137853317
rs137853317
FLNA
A 0.800 CausalMutation CLINVAR

dbSNP: rs28935469
rs28935469
FLNA
A 0.800 CausalMutation CLINVAR

dbSNP: rs727503930
rs727503930
FLNA
0.700 GeneticVariation UNIPROT