rs1064792892
|
|
TT |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
rs1556486029
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
rs1060499534
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
rs1060499535
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
|
19748572 |
2009 |
rs1064792869
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
rs1064792872
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
rs1064792873
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
|
15781193 |
2005 |
rs1064792874
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
|
14720311 |
2004 |
rs1064792875
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1064792876
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
|
15781193 |
2005 |
rs1064792878
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
|
19056268 |
2009 |
rs1064792878
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
|
19056268 |
2009 |
rs1064792879
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
|
12529715 |
2003 |
rs11479
|
|
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 |
rs121913039
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
|
16178026 |
2005 |
rs121913039
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121913040
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
rs121913041
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
|
19748572 |
2009 |
rs201685922
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
|
10852545 |
2000 |
rs770277446
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
|
12529715 |
2003 |
rs773785934
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
rs797044455
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
|
10852545 |
2000 |
rs866001342
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
|
15781193 |
2005 |
rs946234163
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
|
10852545 |
2000 |
rs1556486107
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|