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: rs149977726
rs149977726
1.000 22 50527265 missense variant T/C snv 1.2E-05 9.8E-05
Mitochondrial DNA Depletion Syndrome 1
0.800 1.000 1 1999 2002
dbSNP: rs121913036
rs121913036
1.000 22 50526638 missense variant T/G snv 5.3E-05 4.9E-05
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 5 1999 2013
dbSNP: rs121913040
rs121913040
1.000 22 50526474 missense variant C/A;G;T snv 1.2E-05; 1.2E-05
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 2 2005 2011
dbSNP: rs121913041
rs121913041
1.000 22 50527629 missense variant C/G;T snv 4.0E-06
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 2 2005 2009
dbSNP: rs797044455
rs797044455
1.000 22 50526142 splice acceptor variant C/G;T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 2 1999 2000
dbSNP: rs1060499532
rs1060499532
1.000 22 50526338 missense variant A/G snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011
dbSNP: rs1060499533
rs1060499533
1.000 22 50526293 missense variant A/G snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2003 2003
dbSNP: rs1060499534
rs1060499534
1.000 22 50526246 missense variant C/T snv 7.1E-06
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011
dbSNP: rs1060499535
rs1060499535
1.000 22 50526317 frameshift variant C/- delins
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2009 2009
dbSNP: rs1064792865
rs1064792865
1.000 22 50527716 start lost A/C snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2000 2000
dbSNP: rs1064792866
rs1064792866
1.000 22 50527704 missense variant A/G snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2004 2004
dbSNP: rs1064792867
rs1064792867
1.000 22 50527611 missense variant A/C snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011
dbSNP: rs1064792868
rs1064792868
1.000 22 50527223 missense variant A/G snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2005 2005
dbSNP: rs1064792869
rs1064792869
1.000 22 50527215 missense variant C/T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011
dbSNP: rs1064792870
rs1064792870
1.000 22 50527170 missense variant T/G snv 7.0E-06
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2004 2004
dbSNP: rs1064792871
rs1064792871
1.000 22 50526657 missense variant G/C snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2004 2004
dbSNP: rs1064792872
rs1064792872
1.000 22 50526611 missense variant C/T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011
dbSNP: rs1064792873
rs1064792873
1.000 22 50526141 missense variant C/T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2005 2005
dbSNP: rs1064792874
rs1064792874
1.000 22 50526019 missense variant C/T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2004 2004
dbSNP: rs1064792876
rs1064792876
1.000 22 50526575 splice donor variant C/G;T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2005 2005
dbSNP: rs1064792877
rs1064792877
1.000 22 50526143 splice acceptor variant T/C;G snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011
dbSNP: rs1064792878
rs1064792878
1.000 22 50526000 splice donor variant C/T snv 7.0E-06
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2009 2009
dbSNP: rs1064792879
rs1064792879
1.000 22 50525999 splice donor variant A/G;T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2003 2003
dbSNP: rs1064792881
rs1064792881
1.000 22 50526393 inframe insertion -/CCGTCGTCCAGCGCCGCG delins
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2002 2002
dbSNP: rs1064792885
rs1064792885
1.000 22 50525787 frameshift variant -/A delins
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2009 2009