rs778022582, KLHL40

N. diseases: 4
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.
NEMALINE MYOPATHY 8
CUI: C3809209
Disease: NEMALINE MYOPATHY 8
14 0.925 0.080 3 42688963 missense variant A/C;G snv 9.5E-05; 1.2E-05 0.700 1.000 4 2013 2016
Hyponatremia
CUI: C0020625
Disease: Hyponatremia
11 0.925 0.080 3 42688963 missense variant A/C;G snv 9.5E-05; 1.2E-05 0.010 1.000 1 2019 2019
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.925 0.080 3 42688963 missense variant A/C;G snv 9.5E-05; 1.2E-05 0.010 1.000 1 2019 2019
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
50 0.925 0.080 3 42688963 missense variant A/C;G snv 9.5E-05; 1.2E-05 0.010 1.000 1 2016 2016