Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1011196447
rs1011196447
0.925 0.080 2 69354314 splice acceptor variant T/C snv 2.1E-05
CUI: C3552335
Disease: MYASTHENIC SYNDROME, CONGENITAL, 12
MYASTHENIC SYNDROME, CONGENITAL, 12
0.700 1.000 2 2013 2017
dbSNP: rs1011196447
rs1011196447
0.925 0.080 2 69354314 splice acceptor variant T/C snv 2.1E-05
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital
0.700 0