Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
Eye Diseases 0.700 0
dbSNP: rs121913378
rs121913378
0.776 0.280 7 140753337 missense variant C/A;G;T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
Eye Diseases 0.700 0