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: rs200397144
rs200397144
SDHA
1.000 5 251427 missense variant C/G;T snv 2.4E-05; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2011 2018
dbSNP: rs1061517
rs1061517
SDHA ; CCDC127
0.925 0.080 5 218356 start lost A/C;G;T snv 8.7E-06
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 5 2000 2016
dbSNP: rs1061517
rs1061517
SDHA ; CCDC127
0.925 0.080 5 218356 start lost A/C;G;T snv 8.7E-06
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 5 2000 2016
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: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 4 2000 2016
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: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 4 2000 2016
dbSNP: rs137852767
rs137852767
SDHA
0.925 0.120 5 251011 missense variant C/T snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 3 1995 2015
dbSNP: rs1285132774
rs1285132774
SDHA
0.925 0.080 5 228184 splice acceptor variant G/A;T snv
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 2 2012 2015
dbSNP: rs1285132774
rs1285132774
SDHA
0.925 0.080 5 228184 splice acceptor variant G/A;T snv
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 2 2012 2015
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: 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: rs1553998199
rs1553998199
SDHA
0.925 0.080 5 228248 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2013 2013
dbSNP: rs1553998199
rs1553998199
SDHA
0.925 0.080 5 228248 frameshift variant G/- delins
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 1 2013 2013
dbSNP: rs1553998199
rs1553998199
SDHA
0.925 0.080 5 228248 frameshift variant G/- delins
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 1 2013 2013
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: 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