rs756877019, MUSK

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.
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
16 1.000 9 110800760 missense variant G/C snv 4.0E-06 0.700 0
Fatigue
CUI: C0015672
Disease: Fatigue
67 1.000 9 110800760 missense variant G/C snv 4.0E-06 0.700 0
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
8 1.000 9 110800760 missense variant G/C snv 4.0E-06 0.700 0