rs372949028, TANGO2

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Acidosis, Lactic
CUI: C0001125
Disease: Acidosis, Lactic
21 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
Acute rhabdomyolysis
CUI: C3807306
Disease: Acute rhabdomyolysis
2 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
Electrocardiogram change
CUI: C0855329
Disease: Electrocardiogram change
27 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
Episodic flaccid weakness
CUI: C4025572
Disease: Episodic flaccid weakness
2 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
Episodic metabolic acidosis
CUI: C1859516
Disease: Episodic metabolic acidosis
3 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
CUI: C4225171
Disease: METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
6 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 0
Nerve Degeneration
CUI: C0027746
Disease: Nerve Degeneration
17 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 0