rs104894299, RAPSN

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.
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
CUI: C4225367
Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
13 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.800 1.000 19 2002 2014
Myasthenic Syndromes, Congenital
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
40 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.750 1.000 9 2003 2017
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
CUI: C1837091
Disease: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
21 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.700 1.000 13 2002 2011
Pena-Shokeir syndrome type I
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
21 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.700 1.000 9 2002 2014
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.700 0
Myasthenic Syndromes, Congenital, Slow Channel
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
1 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.010 1.000 1 2017 2017