Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338837
rs80338837
FLNA
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 GeneticVariation UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221

2016
dbSNP: rs80338837
rs80338837
FLNA
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.700 GeneticVariation UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583

2003