Gene: SCO2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064792875
rs1064792875
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913039
rs121913039
TYMP ; SCO2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1471478620
rs1471478620
TYMP ; SCO2
AG 0.700 GeneticVariation CLINVAR

dbSNP: rs1556486107
rs1556486107
TYMP ; SCO2
GC 0.700 CausalMutation CLINVAR

dbSNP: rs1556488264
rs1556488264
TYMP ; SCO2
C 0.700 CausalMutation CLINVAR

dbSNP: rs761665644
rs761665644
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR

dbSNP: rs786205097
rs786205097
TYMP ; SCO2
AG 0.700 CausalMutation CLINVAR

dbSNP: rs121913036
rs121913036
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. 20151198

2010
dbSNP: rs1064792878
rs1064792878
TYMP ; SCO2
T 0.700 GeneticVariation CLINVAR Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 19056268

2009
dbSNP: rs1064792878
rs1064792878
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 19056268

2009
dbSNP: rs1060499532
rs1060499532
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1060499534
rs1060499534
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792867
rs1064792867
TYMP ; SCO2
C 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792869
rs1064792869
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792872
rs1064792872
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792877
rs1064792877
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792877
rs1064792877
TYMP ; SCO2
C 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792889
rs1064792889
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792891
rs1064792891
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792892
rs1064792892
TYMP ; SCO2
TT 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs121913040
rs121913040
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs121913040
rs121913040
TYMP ; SCO2
A 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs764275775
rs764275775
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 21933806

2011
dbSNP: rs1064792868
rs1064792868
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation. 15742109

2005
dbSNP: rs11479
rs11479
TYMP ; SCO2
T 0.700 CausalMutation CLINVAR Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. 17437622

2007