Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205097
rs786205097
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		AG 0.700 CausalMutation CLINVAR

dbSNP: rs761665644
rs761665644
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1556488264
rs1556488264
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1556486107
rs1556486107
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1471478620
rs1471478620
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		AG 0.700 GeneticVariation CLINVAR

dbSNP: rs121913039
rs121913039
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064792875
rs1064792875
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs149977726
rs149977726
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		C 0.800 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs797044455
rs797044455
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs786205098
rs786205098
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		A 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs773785934
rs773785934
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs1556486029
rs1556486029
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		TG 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs121913036
rs121913036
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 9924029

1999
dbSNP: rs946234163
rs946234163
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 10852545

2000
dbSNP: rs797044455
rs797044455
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 10852545

2000
dbSNP: rs201685922
rs201685922
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 10852545

2000
dbSNP: rs1064792865
rs1064792865
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		C 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 10852545

2000
dbSNP: rs1064792887
rs1064792887
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		C 0.700 CausalMutation CLINVAR MNGIE: diarrhea and leukoencephalopathy. 12084896

2002
dbSNP: rs1064792881
rs1064792881
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		AGCCGTCGTCCAGCGCCGC 0.700 CausalMutation CLINVAR Phenotypic variability in a Spanish family with MNGIE. 12177387

2002
dbSNP: rs770277446
rs770277446
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 12529715

2003
dbSNP: rs1064792879
rs1064792879
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 12529715

2003
dbSNP: rs1060499533
rs1060499533
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 12529715

2003
dbSNP: rs892141220
rs892141220
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		G 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311

2004
dbSNP: rs1556486467
rs1556486467
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		GA 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311

2004
dbSNP: rs1064792874
rs1064792874
TYMP ; SCO2
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		T 0.700 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 14720311

2004