rs730882235, KLHL41

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.
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.925 0.080 2 169510415 frameshift variant A/- delins 0.700 0
NEMALINE MYOPATHY 9
CUI: C3810384
Disease: NEMALINE MYOPATHY 9
7 0.925 0.080 2 169510415 frameshift variant A/- delins 0.700 0