Disease: Progressive polyneuropathy with bilateral striatal necrosis ×
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: rs387906944
rs387906944 		0.925 0.160 17 75283509 missense variant C/T snv
CUI: C3150973
Disease: Progressive polyneuropathy with bilateral striatal necrosis
Progressive polyneuropathy with bilateral striatal necrosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 1 2009 2009
dbSNP: rs1175745274
rs1175745274 		1.000 0.080 17 75286352 missense variant T/C;G snv 1.2E-05
CUI: C3150973
Disease: Progressive polyneuropathy with bilateral striatal necrosis
Progressive polyneuropathy with bilateral striatal necrosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1208990609
rs1208990609 		1.000 0.080 17 75278314 missense variant C/T snv 1.4E-05
CUI: C3150973
Disease: Progressive polyneuropathy with bilateral striatal necrosis
Progressive polyneuropathy with bilateral striatal necrosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555603796
rs1555603796 		1.000 0.080 17 75283428 missense variant G/T snv
CUI: C3150973
Disease: Progressive polyneuropathy with bilateral striatal necrosis
Progressive polyneuropathy with bilateral striatal necrosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555604541
rs1555604541 		1.000 0.080 17 75286398 splice donor variant G/A snv
CUI: C3150973
Disease: Progressive polyneuropathy with bilateral striatal necrosis
Progressive polyneuropathy with bilateral striatal necrosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs769187207
rs769187207 		1.000 0.080 17 75278245 missense variant C/A;G snv 1.2E-05
CUI: C3150973
Disease: Progressive polyneuropathy with bilateral striatal necrosis
Progressive polyneuropathy with bilateral striatal necrosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0