Source: CLINVAR

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: rs1054084896
rs1054084896
TYMP
1.000 22 50529598 stop gained C/A snv 4.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1064792860
rs1064792860
TYMP
1.000 22 50529225 stop gained G/A snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs11479
rs11479
TYMP ; SCO2
0.925 0.080 22 50525807 stop gained G/A;C;T snv 0.13; 1.3E-05; 4.3E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2007 2007
dbSNP: rs866001342
rs866001342
TYMP ; SCO2
1.000 22 50526648 stop gained C/A;T snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs1064792875
rs1064792875
TYMP ; SCO2
1.000 22 50525908 stop gained C/T snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs121913036
rs121913036
TYMP ; SCO2
1.000 22 50526638 missense variant T/G snv 5.3E-05 4.9E-05
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 5 1999 2013
dbSNP: rs121913040
rs121913040
TYMP ; SCO2
1.000 22 50526474 missense variant C/A;G;T snv 1.2E-05; 1.2E-05
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 2 2005 2011
dbSNP: rs121913041
rs121913041
TYMP ; SCO2
1.000 22 50527629 missense variant C/G;T snv 4.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 2 2005 2009
dbSNP: rs749827433
rs749827433
TYMP
0.925 22 50529292 missense variant C/A;G snv 4.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 2 2002 2005
dbSNP: rs1060499532
rs1060499532
TYMP ; SCO2
1.000 22 50526338 missense variant A/G snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1060499533
rs1060499533
TYMP ; SCO2
1.000 22 50526293 missense variant A/G snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2003 2003
dbSNP: rs1060499534
rs1060499534
TYMP ; SCO2
1.000 22 50526246 missense variant C/T snv 7.1E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1064792857
rs1064792857
TYMP
1.000 22 50529564 missense variant A/C;T snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1064792858
rs1064792858
TYMP
1.000 22 50529548 missense variant G/C;T snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2003 2003
dbSNP: rs1064792859
rs1064792859
TYMP
1.000 22 50529325 missense variant C/T snv 4.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2004 2004
dbSNP: rs1064792861
rs1064792861
TYMP
1.000 22 50529213 missense variant C/T snv 8.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs1064792862
rs1064792862
TYMP
1.000 22 50529155 missense variant A/G snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2008 2008
dbSNP: rs1064792863
rs1064792863
TYMP
1.000 22 50528561 missense variant T/C snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2004 2004
dbSNP: rs1064792864
rs1064792864
TYMP
1.000 22 50528550 missense variant A/G snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2000 2000
dbSNP: rs1064792866
rs1064792866
TYMP ; SCO2
1.000 22 50527704 missense variant A/G snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2004 2004
dbSNP: rs1064792867
rs1064792867
TYMP ; SCO2
1.000 22 50527611 missense variant A/C snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1064792868
rs1064792868
TYMP ; SCO2
1.000 22 50527223 missense variant A/G snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs1064792869
rs1064792869
TYMP ; SCO2
1.000 22 50527215 missense variant C/T snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1064792870
rs1064792870
TYMP ; SCO2
1.000 22 50527170 missense variant T/G snv 7.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2004 2004
dbSNP: rs1064792871
rs1064792871
TYMP ; SCO2
1.000 22 50526657 missense variant G/C snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2004 2004