RNF170, ring finger protein 170, 81790

N. diseases: 11; N. variants: 2
Disease: ATAXIA, SENSORY, AUTOSOMAL DOMINANT ×
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: rs397514478
rs397514478 		1.000 0.080 8 42856341 missense variant G/A snv 4.4E-06
CUI: C1837015
Disease: ATAXIA, SENSORY, AUTOSOMAL DOMINANT
ATAXIA, SENSORY, AUTOSOMAL DOMINANT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs587780441
rs587780441 		1.000 0.080 8 42856296 missense variant T/C snv 2.3E-04 5.6E-05
CUI: C1837015
Disease: ATAXIA, SENSORY, AUTOSOMAL DOMINANT
ATAXIA, SENSORY, AUTOSOMAL DOMINANT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0