SNX14, sorting nexin 14, 57231

N. diseases: 59; N. variants: 12
Disease: Progressive cerebellar ataxia ×
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: rs201128942
rs201128942 		0.851 0.120 6 85547112 stop gained C/A;T snv 2.4E-05 4.2E-05
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0