rs863223285, SGCE;CASD1

N. diseases: 1
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 dystonia
CUI: C1834570
Disease: Myoclonic dystonia
29 1.000 0.040 7 94618800 frameshift variant CT/- del 0.700 0