Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 2011 2017
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 13 2010 2017
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 9 2011 2016
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.700 1.000 4 2010 2017
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 4 2010 2017
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 4 2010 2017
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 4 2010 2017
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		0.700 0
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1GG 		0.700 0
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C1858592
Disease: Carney Triad
Carney Triad 		0.700 0
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 0
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C3203483
Disease: Pulmonary chondroma
Pulmonary chondroma 		0.700 0