SNX5, sorting nexin 5, 27131

N. diseases: 24; N. variants: 3
Disease: Cerebellar atrophy ×
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: rs1555789140
rs1555789140 		0.882 0.120 20 17970217 frameshift variant C/- delins
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 1 2017 2017