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: C1858592
Disease: Carney Triad
Carney Triad 		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: C0023264
Disease: Leigh Disease
Leigh Disease 		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: 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: rs1057523165
rs1057523165
SDHA
0.925 0.080 5 223569 splice donor variant G/A snv 1.6E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1458851277
rs1458851277
SDHA
5 224359 splice acceptor variant G/C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1553997340
rs1553997340
SDHA
1.000 5 224418 frameshift variant -/A delins
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
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: rs781764920
rs781764920
SDHA
0.925 0.080 5 224432 stop gained C/T snv 9.2E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2013 2013
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: 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: rs786205145
rs786205145
SDHA
0.925 0.120 5 224504 missense variant C/T snv
CUI: C3203483
Disease: Pulmonary chondroma
Pulmonary chondroma 		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: 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
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: rs1060503711
rs1060503711
SDHA
1.000 0.080 5 225906 missense variant T/C;G snv
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
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: rs775827529
rs775827529
SDHA
0.925 0.080 5 225979 stop gained C/G;T snv 8.0E-06
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs775827529
rs775827529
SDHA
0.925 0.080 5 225979 stop gained C/G;T snv 8.0E-06
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
dbSNP: rs1553997826
rs1553997826
SDHA
5 225982 frameshift variant CCATCGGTGC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0