rs28935469, FLNA

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Oto-Palato-digital syndrome type 1
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
4 0.882 0.280 X 154367844 missense variant G/A snv 0.800 1.000 3 2003 2016
Conductive hearing loss
CUI: C0018777
Disease: Conductive hearing loss
5 0.882 0.280 X 154367844 missense variant G/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.280 X 154367844 missense variant G/A snv 0.700 0
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.882 0.280 X 154367844 missense variant G/A snv 0.700 0