rs104894107, FXN

N. diseases: 6
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.
FRIEDREICH ATAXIA 1
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
24 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.800 1.000 6 1997 2009
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.030 1.000 3 1999 2010
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.020 1.000 2 2002 2010
Friedreich Ataxia
CUI: C0016719
Disease: Friedreich Ataxia
11 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.020 1.000 2 2002 2008
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.010 1.000 1 1999 1999
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 0.010 1.000 1 2002 2002