rs551423795, MUSK

N. diseases: 4
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 0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05 0.700 0
Fatigue
CUI: C0015672
Disease: Fatigue
67 0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05 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 0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05 0.700 0
Pena-Shokeir syndrome type I
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
21 0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05 0.700 0