FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Ehlers-Danlos syndrome type 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045044
rs797045044
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0268341
Disease:
Ehlers-Danlos syndrome type 5 		T 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs267606815
rs267606815
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0268341
Disease:
Ehlers-Danlos syndrome type 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267606816
rs267606816
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0268341
Disease:
Ehlers-Danlos syndrome type 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267606817
rs267606817
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0268341
Disease:
Ehlers-Danlos syndrome type 5 		T 0.700 CausalMutation CLINVAR