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: 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: 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: 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
dbSNP: rs397514541
rs397514541
SDHA
0.925 0.120 5 240451 missense variant C/G;T snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 1.000 1 2012 2012
dbSNP: rs397514541
rs397514541
SDHA
0.925 0.120 5 240451 missense variant C/G;T snv 4.0E-06
CUI: C0342777
Disease: Succinate-coenzyme Q reductase deficiency
Succinate-coenzyme Q reductase deficiency 		0.010 1.000 1 2012 2012
dbSNP: rs750380279
rs750380279
SDHA ; CCDC127
0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs750380279
rs750380279
SDHA ; CCDC127
0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs750380279
rs750380279
SDHA ; CCDC127
0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.010 1.000 1 2019 2019
dbSNP: rs750380279
rs750380279
SDHA ; CCDC127
0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs775143272
rs775143272
SDHA
0.925 0.080 5 228191 stop gained C/T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs777167108
rs777167108
SDHA
5 230905 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs779151375
rs779151375
SDHA
5 236507 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
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: rs9809219
rs9809219
SDHA
0.925 0.120 5 251100 missense variant C/T snv 4.0E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1995 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