Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894299
rs104894299
RAPSN
0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C4225367
Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 1.000 15 2002 2014
dbSNP: rs104894299
rs104894299
RAPSN
0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.750 1.000 4 2003 2017
dbSNP: rs104894299
rs104894299
RAPSN
0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C1837091
Disease: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.700 1.000 13 2002 2011
dbSNP: rs104894299
rs104894299
RAPSN
0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.700 1.000 9 2002 2014
dbSNP: rs104894299
rs104894299
RAPSN
0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0