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: 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: rs104894708
rs104894708
0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
Immune System Diseases; Nervous System Diseases 0.700 1.000 5 2001 2016
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: 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: 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: rs104894714
rs104894714
0.925 0.080 19 40395495 stop gained G/A snv 3.2E-05
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
0.700 1.000 1 2001 2001
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: 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
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
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: rs104894706
rs104894706
0.925 0.080 19 40397766 stop gained G/A;C;T snv
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
0.700 0
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: rs104894708
rs104894708
0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
0.700 0
dbSNP: rs1385904344
rs1385904344
1.000 19 40394649 stop gained C/A;T snv 4.1E-06 1.4E-05
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
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: rs1568708792
rs1568708792
1.000 19 40397373 frameshift variant C/- delins
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
0.700 0
dbSNP: rs281865061
rs281865061
1.000 19 40398754 frameshift variant G/- delins
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
0.700 0
dbSNP: rs281865062
rs281865062
1.000 19 40396254 frameshift variant C/- delins
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
0.700 0
dbSNP: rs3814290
rs3814290
1.000 19 40396401 missense variant C/A;G;T snv 4.0E-06; 9.2E-05
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
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