PCDH12, protocadherin 12, 51294

N. diseases: 29; N. variants: 6
Disease: 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: rs531630376
rs531630376 		1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2019 2019