rs869125101, LMNA

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.
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 1.000 0.080 1 156134529 splice donor variant G/A;C snv 0.700 1.000 2 2008 2008
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 1.000 0.080 1 156134529 splice donor variant G/A;C snv 0.700 1.000 1 2013 2013