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: rs758440592
rs758440592
0.882 0.120 12 53314832 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
Nervous System Diseases 0.010 1.000 1 2019 2019