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: 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
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: rs878854627
rs878854627
SDHA
0.925 0.080 5 236599 splice donor variant GG/- del 4.0E-06 7.0E-06
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 2 2012 2015
dbSNP: rs878854627
rs878854627
SDHA
0.925 0.080 5 236599 splice donor variant GG/- del 4.0E-06 7.0E-06
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: 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: 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: rs748089700
rs748089700
SDHA
0.925 0.080 5 240459 stop gained C/T snv 3.2E-05 4.9E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2015 2015
dbSNP: rs775827529
rs775827529
SDHA
0.925 0.080 5 225979 stop gained C/G;T snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2013 2013
dbSNP: rs778207102
rs778207102
SDHA
0.925 0.080 5 240396 stop gained G/T snv 4.0E-06 7.0E-06
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 1 2013 2013
dbSNP: rs778207102
rs778207102
SDHA
0.925 0.080 5 240396 stop gained G/T snv 4.0E-06 7.0E-06
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 1 2013 2013