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: 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: 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: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 4 2010 2017
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: 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: 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: 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: rs786205145
rs786205145
SDHA
0.925 0.120 5 224504 missense variant C/T snv
CUI: C1858592
Disease: Carney Triad
Carney Triad 		0.700 0
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: 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: 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: 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: 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: 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: 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: rs9809219
rs9809219
SDHA
0.925 0.120 5 251100 missense variant C/T snv 4.0E-05 1.4E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 0
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: 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: 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: 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: 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: 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: 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: 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