rs115079861, RMND1

N. diseases: 3
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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03 0.700 1.000 8 2008 2016
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03 0.700 1.000 1 2016 2016
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
6 1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03 0.700 0