rs142441643, SDHA

N. diseases: 15
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 13 2011 2017
PARAGANGLIOMAS 5
CUI: C3279992
Disease: PARAGANGLIOMAS 5
39 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 13 2010 2017
Mitochondrial Complex II Deficiency
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
45 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 9 2011 2016
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 4 2010 2017
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 4 2010 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 4 2010 2017
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 4 2010 2017
CARDIOMYOPATHY, DILATED, 1GG
CUI: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
2 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 0
Carney Triad
CUI: C1858592
Disease: Carney Triad
6 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 0
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 0
Pilocytic Astrocytoma
CUI: C0334583
Disease: Pilocytic Astrocytoma
14 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 0
Pulmonary chondroma
CUI: C3203483
Disease: Pulmonary chondroma
6 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 0
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.010 1.000 1 2015 2015
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.010 1.000 1 2015 2015
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.010 1.000 1 2015 2015