PRX, periaxin, 57716

N. diseases: 75; N. variants: 21
Disease: Dejerine-Sottas Disease (disorder) ×
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: rs104894708
rs104894708 		0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 5 2001 2016
dbSNP: rs797045102
rs797045102 		1.000 0.080 19 40396063 frameshift variant A/- delins
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2001 2013
dbSNP: rs754521978
rs754521978 		1.000 0.080 19 40395565 frameshift variant G/- delins 9.9E-05 7.0E-06
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2001 2001
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: rs1555801290
rs1555801290 		1.000 0.080 19 40397340 frameshift variant C/- delins
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