rs121912823, CHAT

N. diseases: 6
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.
Familial infantile myasthenia
CUI: C0393929
Disease: Familial infantile myasthenia
16 0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 0.800 1.000 2 2001 2003
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
Fatigability
CUI: C0231230
Disease: Fatigability
4 0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
Myasthenic Syndromes, Congenital
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
40 0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
Ptosis
CUI: C0033377
Disease: Ptosis
12 0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
Respiratory distress
CUI: C0476273
Disease: Respiratory distress
16 0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009