rs142157346, FXN

N. diseases: 4
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 69053240 missense variant G/T snv 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.882 0.160 9 69053240 missense variant G/T snv 0.010 1.000 1 1999 1999
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.882 0.160 9 69053240 missense variant G/T snv 0.010 1.000 1 1999 1999
Friedreich Ataxia
CUI: C0016719
Disease: Friedreich Ataxia
11 0.882 0.160 9 69053240 missense variant G/T snv 0.010 1.000 1 2008 2008