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: rs1064793567
rs1064793567
SDHA
0.925 0.080 5 240451 stop gained CG/GA mnv
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs1064793567
rs1064793567
SDHA
0.925 0.080 5 240451 stop gained CG/GA mnv
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
dbSNP: rs1064793567
rs1064793567
SDHA
0.925 0.080 5 240451 stop gained CG/GA mnv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
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: rs878854627
rs878854627
SDHA
0.925 0.080 5 236599 splice donor variant GG/- del 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2016 2016
dbSNP: rs1553998606
rs1553998606
SDHA
0.925 0.080 5 230880 frameshift variant T/- del
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs1553998606
rs1553998606
SDHA
0.925 0.080 5 230880 frameshift variant T/- del
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
dbSNP: rs1553998606
rs1553998606
SDHA
0.925 0.080 5 230880 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1560994766
rs1560994766
SDHA
0.925 0.080 5 233576 frameshift variant CT/- del
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs1560994766
rs1560994766
SDHA
0.925 0.080 5 233576 frameshift variant CT/- del
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: 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: rs1041809852
rs1041809852
SDHA
0.925 0.080 5 228324 splice donor variant TGCCACAGGGTAGGAATCTCATTTCT/- delins
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs1041809852
rs1041809852
SDHA
0.925 0.080 5 228324 splice donor variant TGCCACAGGGTAGGAATCTCATTTCT/- delins
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		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: 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: rs1553997826
rs1553997826
SDHA
5 225982 frameshift variant CCATCGGTGC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
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: rs1553998254
rs1553998254
SDHA
1.000 5 228319 frameshift variant GT/- delins
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0