rs752298579, TANGO2

N. diseases: 48
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.
Abnormality of lateral ventricle
CUI: C4022662
Disease: Abnormality of lateral ventricle
2 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Acute rhabdomyolysis
CUI: C3807306
Disease: Acute rhabdomyolysis
2 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Atrophy/Degeneration affecting the cerebrum
CUI: C4024898
Disease: Atrophy/Degeneration affecting the cerebrum
1 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Babinski Reflex
CUI: C0034935
Disease: Babinski Reflex
11 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Brisk reflexes
CUI: C2673700
Disease: Brisk reflexes
7 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Clonus
CUI: C0009024
Disease: Clonus
4 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
43 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Electrocardiogram change
CUI: C0855329
Disease: Electrocardiogram change
27 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Episodic flaccid weakness
CUI: C4025572
Disease: Episodic flaccid weakness
2 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Episodic metabolic acidosis
CUI: C1859516
Disease: Episodic metabolic acidosis
3 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Gait Ataxia
CUI: C0751837
Disease: Gait Ataxia
17 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Intermittent lactic acidemia
CUI: C1844917
Disease: Intermittent lactic acidemia
3 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Ketotic hypoglycemia
CUI: C0271713
Disease: Ketotic hypoglycemia
1 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Muscle fiber atrophy
CUI: C0333751
Disease: Muscle fiber atrophy
2 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016