PRX, periaxin, 57716

N. diseases: 75; N. variants: 21
Disease: Charcot-Marie-Tooth disease type 4 ×
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: rs104894715
rs104894715 		1.000 0.080 19 40397250 stop gained G/A;C snv 4.0E-06; 4.0E-06
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 5 2001 2016
dbSNP: rs1568704829
rs1568704829 		1.000 0.080 19 40395498 frameshift variant -/A delins
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 5 2004 2016
dbSNP: rs1301129751
rs1301129751 		1.000 0.080 19 40395337 frameshift variant -/A ins 8.0E-06 7.0E-06
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 4 2004 2016
dbSNP: rs104894708
rs104894708 		0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06
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 2 2004 2004
dbSNP: rs104894714
rs104894714 		0.925 0.080 19 40395495 stop gained G/A snv 3.2E-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 2 2001 2004
dbSNP: rs574861276
rs574861276 		1.000 0.080 19 40396962 stop gained G/A;C snv 4.0E-06; 4.0E-06
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 2 2002 2017
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: rs1568710514
rs1568710514 		1.000 0.080 19 40398648 frameshift variant T/- delins
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: rs752192677
rs752192677 		1.000 0.080 19 40398770 stop gained G/A;C snv 8.1E-06; 1.2E-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 2014 2014