rs121909254, RAPSN

N. diseases: 2
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 0.925 0.080 11 47448832 missense variant C/A;G;T snv 4.0E-06; 3.6E-05 0.800 1.000 10 2002 2009
Pena-Shokeir syndrome type I
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
21 0.925 0.080 11 47448832 missense variant C/A;G;T snv 4.0E-06; 3.6E-05 0.700 1.000 2 2007 2009