rs1114167423, APTX

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.
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
19 0.882 0.240 9 32984704 stop gained T/A snv 0.700 1.000 1 2017 2017
Athetosis
CUI: C0004158
Disease: Athetosis
3 0.882 0.240 9 32984704 stop gained T/A snv 0.700 1.000 1 2017 2017
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.882 0.240 9 32984704 stop gained T/A snv 0.700 1.000 1 2017 2017
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.882 0.240 9 32984704 stop gained T/A snv 0.700 1.000 1 2017 2017
Oculomotor apraxia
CUI: C3489733
Disease: Oculomotor apraxia
14 0.882 0.240 9 32984704 stop gained T/A snv 0.700 1.000 1 2017 2017
Reduced tendon reflexes
CUI: C1866934
Disease: Reduced tendon reflexes
8 0.882 0.240 9 32984704 stop gained T/A snv 0.700 1.000 1 2017 2017