Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs376766195
rs376766195
1.000 4 151719458 missense variant A/C snv 8.0E-06
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy
0.700 1.000 1 2018 2018
dbSNP: rs565910322
rs565910322
1.000 4 151716935 frameshift variant CT/- del 7.0E-06
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy
0.700 1.000 1 2018 2018