Source: ALL

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: rs766667009
rs766667009
SDHA
0.925 0.080 5 251104 splice donor variant G/T snv 4.0E-06 1.4E-05
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 2 2012 2015
dbSNP: rs766667009
rs766667009
SDHA
0.925 0.080 5 251104 splice donor variant G/T snv 4.0E-06 1.4E-05
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 2 2012 2015
dbSNP: rs778207102
rs778207102
SDHA
0.925 0.080 5 240396 stop gained G/T snv 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2013 2014
dbSNP: rs779151375
rs779151375
SDHA
5 236507 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2013 2017
dbSNP: rs781764920
rs781764920
SDHA
0.925 0.080 5 224432 stop gained C/T snv 9.2E-05 2.8E-05
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 2 2013 2014
dbSNP: rs781764920
rs781764920
SDHA
0.925 0.080 5 224432 stop gained C/T snv 9.2E-05 2.8E-05
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 2 2013 2014
dbSNP: rs1061517
rs1061517
SDHA ; CCDC127
0.925 0.080 5 218356 start lost A/C;G;T snv 8.7E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2016 2016
dbSNP: rs137852768
rs137852768
SDHA
0.925 0.080 5 251338 missense variant G/A snv 4.1E-06
CUI: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1GG 		0.800 1.000 1 2010 2010
dbSNP: rs1393298155
rs1393298155
SDHA
1.000 0.040 5 225998 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0017653
Disease: Glomus Tumor
Glomus Tumor 		0.010 1.000 1 2009 2009
dbSNP: rs1398198098
rs1398198098
SDHA ; CCDC127
1.000 0.120 5 218363 missense variant G/C snv
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.010 1.000 1 2012 2012
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.010 1.000 1 2015 2015
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.010 1.000 1 2015 2015
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.010 1.000 1 2015 2015
dbSNP: rs151170408
rs151170408
SDHA
0.925 0.080 5 235230 stop gained C/G snv 8.0E-06 7.0E-06
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 1 2011 2011
dbSNP: rs151170408
rs151170408
SDHA
0.925 0.080 5 235230 stop gained C/G snv 8.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2011 2011
dbSNP: rs151170408
rs151170408
SDHA
0.925 0.080 5 235230 stop gained C/G snv 8.0E-06 7.0E-06
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 1 2011 2011
dbSNP: rs151266052
rs151266052
SDHA
0.925 0.120 5 240448 missense variant C/T snv 6.0E-04 2.4E-03
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 1.000 1 2012 2012
dbSNP: rs151266052
rs151266052
SDHA
0.925 0.120 5 240448 missense variant C/T snv 6.0E-04 2.4E-03
CUI: C0342777
Disease: Succinate-coenzyme Q reductase deficiency
Succinate-coenzyme Q reductase deficiency 		0.010 1.000 1 2012 2012
dbSNP: rs151266052
rs151266052
SDHA
0.925 0.120 5 240448 missense variant C/T snv 6.0E-04 2.4E-03
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.010 1.000 1 2012 2012
dbSNP: rs1554000360
rs1554000360
SDHA
0.925 0.080 5 240393 stop gained G/T snv
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 1 2017 2017
dbSNP: rs1554000360
rs1554000360
SDHA
0.925 0.080 5 240393 stop gained G/T snv
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 1 2017 2017
dbSNP: rs200397144
rs200397144
SDHA
1.000 5 251427 missense variant C/G;T snv 2.4E-05; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs34635677
rs34635677
SDHA
5 223531 missense variant A/T snv 3.5E-02 2.9E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs387906780
rs387906780
SDHA
0.882 0.120 5 251439 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.010 1.000 1 2010 2010
dbSNP: rs397514541
rs397514541
SDHA
0.925 0.120 5 240451 missense variant C/G;T snv 4.0E-06
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.010 1.000 1 2012 2012