rs104894299, RAPSN

N. diseases: 5
Source: CURATED ×
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.
Myopathy
CUI: C0026848
Disease: Myopathy
74 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.700 0
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
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
Pena-Shokeir syndrome type I
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
18 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.700 1.000 9 2002 2014
Myasthenic Syndromes, Congenital
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
26 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.750 1.000 4 2003 2017