rs80338933, SH3TC2

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.710 1.000 5 2003 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.700 1.000 4 1997 2011
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
77 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.700 1.000 1 2008 2008
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
27 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.700 0
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
16 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.700 0
MONONEUROPATHY OF THE MEDIAN NERVE, MILD
CUI: C3150596
Disease: MONONEUROPATHY OF THE MEDIAN NERVE, MILD
2 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.700 0
Respiratory Insufficiency
CUI: C0035229
Disease: Respiratory Insufficiency
15 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.700 0
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
21 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.700 0
Inflammatory neuropathy
CUI: C0270933
Disease: Inflammatory neuropathy
1 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.010 1.000 1 2009 2009