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: rs1553997340
rs1553997340
SDHA
1.000 5 224418 frameshift variant -/A delins
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
dbSNP: rs1554000378
rs1554000378
SDHA
0.925 0.080 5 240471 frameshift variant -/A delins
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs1554000378
rs1554000378
SDHA
0.925 0.080 5 240471 frameshift variant -/A delins
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
dbSNP: rs1554001843
rs1554001843
SDHA
0.925 0.080 5 251051 frameshift variant -/A delins
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs1554001843
rs1554001843
SDHA
0.925 0.080 5 251051 frameshift variant -/A delins
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
dbSNP: rs876658637
rs876658637
SDHA
5 224516 splice donor variant -/CA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1560980939
rs1560980939
SDHA ; CCDC127
0.925 0.080 5 218395 frameshift variant -/CTGGCGC delins
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
dbSNP: rs1560980939
rs1560980939
SDHA ; CCDC127
0.925 0.080 5 218395 frameshift variant -/CTGGCGC delins
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs1560986132
rs1560986132
SDHA
0.925 0.080 5 224461 stop gained -/TTTA delins
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs1560986132
rs1560986132
SDHA
0.925 0.080 5 224461 stop gained -/TTTA delins
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
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: 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: 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: 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: rs747939816
rs747939816
SDHA
5 256332 splice acceptor variant A/G snv 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
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: rs1553998229
rs1553998229
SDHA
0.925 0.080 5 228283 frameshift variant ACGGG/- delins
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs1553998229
rs1553998229
SDHA
0.925 0.080 5 228283 frameshift variant ACGGG/- delins
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
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: rs1560989804
rs1560989804
SDHA
0.925 0.080 5 228206 frameshift variant AT/- delins
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs1560989804
rs1560989804
SDHA
0.925 0.080 5 228206 frameshift variant AT/- delins
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
dbSNP: rs1553997617
rs1553997617
SDHA
0.925 0.080 5 225483 frameshift variant C/- delins
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs1553997617
rs1553997617
SDHA
0.925 0.080 5 225483 frameshift variant C/- delins
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0