FXN, frataxin, 2395

N. diseases: 220; 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: rs104894107
rs104894107
0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs142157346
rs142157346
0.882 0.160 9 69053240 missense variant G/T snv
CUI: C0013362
Disease: Dysarthria
Dysarthria
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 1999 1999