rs121908627, CLTA;GNE

N. diseases: 3
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.
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
75 0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03 0.810 1.000 23 2001 2017
Sialuria
CUI: C0342853
Disease: Sialuria
14 0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03 0.700 1.000 13 2001 2017
Myopathy
CUI: C0026848
Disease: Myopathy
74 0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03 0.700 0