Source: ALL
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: rs1562168768
rs1562168768
1.000 6 106649042 missense variant G/T snv
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy
0.700 1.000 2 2016 2018
dbSNP: rs1026619
rs1026619
6 106666486 3 prime UTR variant A/G snv 0.34
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2012 2012
dbSNP: rs1562169661
rs1562169661
1.000 6 106652238 missense variant CCAGAAATCC/ACAAAAATCA mnv
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy
0.700 1.000 1 2018 2018
dbSNP: rs1562173313
rs1562173313
1.000 6 106663098 missense variant GC/TT mnv
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy
0.700 1.000 1 2018 2018
dbSNP: rs763443331
rs763443331
1.000 6 106649199 stop gained C/A;T snv 1.2E-05 7.0E-06
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy
0.700 1.000 1 2018 2018