PRPH, peripherin, 5630

N. diseases: 73; N. variants: 2
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: rs58599399
rs58599399 		1.000 0.080 12 49295621 missense variant G/A;T snv 3.2E-03
CUI: C4016314
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1384483492
rs1384483492 		0.925 0.120 12 49295697 missense variant A/G snv 1.4E-05
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1384483492
rs1384483492 		0.925 0.120 12 49295697 missense variant A/G snv 1.4E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs58599399
rs58599399 		1.000 0.080 12 49295621 missense variant G/A;T snv 3.2E-03
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011