Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606817
rs267606817
FLNA
CUI: C0262436
Disease: Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked 		0.710 GeneticVariation BEFREE Two other missense mutations (G288R and V711D) and a 1944-bp genomic deletion coding for exons 16 to 19 in the FLNA gene were identified in 3 additional, smaller, unrelated families affected by valvular dystrophy, which demonstrates the responsibility of FLNA as a cause of XMVD. 17190868

2007
dbSNP: rs267606817
rs267606817
FLNA
CUI: C0262436
Disease: Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked 		0.710 GeneticVariation UNIPROT Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. 17190868

2007