Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140291094
rs140291094
0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04
CUI: C0033377
Disease: Ptosis
Ptosis
0.010 1.000 1 2017 2017