Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs622288
rs622288
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C4540096
Disease:
MYOPATHY, MITOCHONDRIAL, AND ATAXIA
0.800 GeneticVariation UNIPROT
dbSNP: rs622288
rs622288
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C4540096
Disease:
MYOPATHY, MITOCHONDRIAL, AND ATAXIA
T 0.800 GeneticVariation CLINVAR
dbSNP: rs1553295536
rs1553295536
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C4540096
Disease:
MYOPATHY, MITOCHONDRIAL, AND ATAXIA
0.700 GeneticVariation UNIPROT MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. 28554942 2017
dbSNP: rs1553295536
rs1553295536
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C4540096
Disease:
MYOPATHY, MITOCHONDRIAL, AND ATAXIA
0.700 GeneticVariation UNIPROT Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. 28544275 2017
dbSNP: rs762798018
rs762798018
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C4540096
Disease:
MYOPATHY, MITOCHONDRIAL, AND ATAXIA
0.700 GeneticVariation UNIPROT Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. 28544275 2017
dbSNP: rs762798018
rs762798018
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C4540096
Disease:
MYOPATHY, MITOCHONDRIAL, AND ATAXIA
0.700 GeneticVariation UNIPROT MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. 28554942 2017
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C4540096
Disease:
MYOPATHY, MITOCHONDRIAL, AND ATAXIA
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C0427190
Disease:
Ataxia, Truncal
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C0231687
Disease:
Spastic gait
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C0575081
Disease:
Gait abnormality
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C0023015
Disease:
Language Disorders
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C3714796
Disease:
Isolated somatotropin deficiency
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C0740279
Disease:
Cerebellar atrophy
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C0520966
Disease:
Abnormal coordination
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C0393525
Disease:
Progressive cerebellar ataxia
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C0241005
Disease:
Creatine phosphokinase serum increased
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C1851085
Disease:
Severe expressive language delay
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C1836696
Disease:
Lower limb hyperreflexia
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C0234518
Disease:
Slurred speech
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C0454642
Disease:
Receptive language delay
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1208636573
rs1208636573
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C1836479
Disease:
Saccadic smooth pursuit
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1248439783
rs1248439783
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C4540096
Disease:
MYOPATHY, MITOCHONDRIAL, AND ATAXIA
A 0.700 GeneticVariation CLINVAR
dbSNP: rs622288
rs622288
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C1851085
Disease:
Severe expressive language delay
T 0.700 GeneticVariation CLINVAR
dbSNP: rs622288
rs622288
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C0241005
Disease:
Creatine phosphokinase serum increased
T 0.700 GeneticVariation CLINVAR
dbSNP: rs622288
rs622288
Entrez Id: 55154;105371452
Gene Symbol: MSTO1;LOC105371452
MSTO1;LOC105371452
CUI: C0393525
Disease:
Progressive cerebellar ataxia
T 0.700 GeneticVariation CLINVAR