AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Source: ALL
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: rs121918551
rs121918551
0.882 0.200 12 53308095 missense variant G/A snv 4.0E-06
CUI: C0344505
Disease: Alacrima
Alacrima
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2008 2008