Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935469
rs28935469
FLNA
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs28935469
rs28935469
FLNA
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28935469
rs28935469
FLNA
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28935469
rs28935469
FLNA
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		A 0.700 CausalMutation CLINVAR