Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515421
rs397515421
RMND1
1.000 6 151405787 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.800 1.000 4 2012 2016
dbSNP: rs397515421
rs397515421
RMND1
1.000 6 151405787 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 1.000 1 2016 2016