rs387907261, KCTD7

N. diseases: 2
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.
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
11 0.925 0.040 7 66639180 missense variant A/G;T snv 0.800 1.000 5 2007 2012
Myoclonic Epilepsies, Progressive
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
17 0.925 0.040 7 66639180 missense variant A/G;T snv 0.010 1.000 1 2016 2016