rs879253789, SCN4A

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, 16
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
10 0.925 0.080 17 63941922 missense variant G/A;T snv 1.6E-05 7.0E-06 0.700 1.000 3 2003 2016
Myasthenic Syndromes, Congenital
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
40 0.925 0.080 17 63941922 missense variant G/A;T snv 1.6E-05 7.0E-06 0.700 1.000 1 2016 2016