PRX, periaxin, 57716

N. diseases: 75; N. variants: 21
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: rs104894707
rs104894707 		0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs104894707
rs104894707 		0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2002 2002
dbSNP: rs104894707
rs104894707 		0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs10425452
rs10425452 		1.000 0.080 19 40397853 missense variant G/A snv 1.6E-04 6.1E-04
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs16974263
rs16974263 		1.000 0.040 19 40407632 non coding transcript exon variant C/T snv 0.28
CUI: C0029882
Disease: Otitis Media
Otitis Media 		Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016