rs750033880, KCTD7

N. diseases: 3
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.
Myoclonic Epilepsy
CUI: C0014550
Disease: Myoclonic Epilepsy
9 0.925 0.120 7 66633302 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019
Myoclonic Seizures
CUI: C4317123
Disease: Myoclonic Seizures
3 0.925 0.120 7 66633302 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.925 0.120 7 66633302 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019