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: 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: 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: 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: rs387906780
rs387906780
SDHA
0.882 0.120 5 251439 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.800 1.000 8 2010 2017
dbSNP: rs387906780
rs387906780
SDHA
0.882 0.120 5 251439 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2009 2014
dbSNP: rs387906780
rs387906780
SDHA
0.882 0.120 5 251439 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 7 2010 2017
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: 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: 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: 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: rs878854632
rs878854632
SDHA
0.925 0.080 5 225880 splice acceptor variant AGC/- delins 7.0E-06
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 3 2012 2015
dbSNP: rs878854632
rs878854632
SDHA
0.925 0.080 5 225880 splice acceptor variant AGC/- delins 7.0E-06
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 3 2012 2015
dbSNP: rs1057523165
rs1057523165
SDHA
0.925 0.080 5 223569 splice donor variant G/A snv 1.6E-05 7.0E-06
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 2 2012 2015
dbSNP: rs1057523165
rs1057523165
SDHA
0.925 0.080 5 223569 splice donor variant G/A snv 1.6E-05 7.0E-06
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		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: 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: rs748089700
rs748089700
SDHA
0.925 0.080 5 240459 stop gained C/T snv 3.2E-05 4.9E-05
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 2 2013 2015
dbSNP: rs748089700
rs748089700
SDHA
0.925 0.080 5 240459 stop gained C/T snv 3.2E-05 4.9E-05
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 2 2013 2015
dbSNP: rs766667009
rs766667009
SDHA
0.925 0.080 5 251104 splice donor variant G/T snv 4.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2012 2013
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