rs397515421, RMND1

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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
6 1.000 6 151405787 missense variant C/T snv 2.0E-05 2.1E-05 0.800 1.000 4 2012 2016
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 1.000 6 151405787 missense variant C/T snv 2.0E-05 2.1E-05 0.700 1.000 1 2016 2016