rs765965968, TBC1D24

N. diseases: 5
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.
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.882 0.080 16 2498333 missense variant G/A;T snv 1.3E-05; 4.2E-06 0.700 0
periodic paralysis (finding)
CUI: C1279412
Disease: periodic paralysis (finding)
11 0.882 0.080 16 2498333 missense variant G/A;T snv 1.3E-05; 4.2E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.080 16 2498333 missense variant G/A;T snv 1.3E-05; 4.2E-06 0.700 0
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
CUI: C2676254
Disease: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
4 0.882 0.080 16 2498333 missense variant G/A;T snv 1.3E-05; 4.2E-06 0.700 0
Epilepsy, Rolandic
CUI: C0376532
Disease: Epilepsy, Rolandic
81 0.882 0.080 16 2498333 missense variant G/A;T snv 1.3E-05; 4.2E-06 0.010 1.000 1 2019 2019