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: rs1057518966
rs1057518966
1.000 0.040 9 110800743 missense variant G/A snv
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis
Eye Diseases 0.700 0
dbSNP: rs751889864
rs751889864
0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis
Eye Diseases 0.700 0