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: rs3918256
rs3918256
1.000 0.040 20 46012320 splice region variant G/A snv 0.43 0.44
CUI: C0033377
Disease: Ptosis
Ptosis
0.010 1.000 1 2012 2012