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: 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: rs1553999072
rs1553999072
SDHA
1.000 5 233647 splice donor variant T/A snv
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
dbSNP: rs1553999072
rs1553999072
SDHA
1.000 5 233647 splice donor variant T/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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: 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: 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: rs1560992565
rs1560992565
SDHA
0.925 0.080 5 230985 stop gained C/G;T snv
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs1560992565
rs1560992565
SDHA
0.925 0.080 5 230985 stop gained C/G;T snv
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		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: rs587782077
rs587782077
SDHA
0.925 0.080 5 228229 frameshift variant G/- delins 1.4E-05
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs587782077
rs587782077
SDHA
0.925 0.080 5 228229 frameshift variant G/- delins 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587782077
rs587782077
SDHA
0.925 0.080 5 228229 frameshift variant G/- delins 1.4E-05
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
dbSNP: rs771328239
rs771328239
SDHA
0.925 0.080 5 233566 stop gained C/A;G;T snv
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 0
dbSNP: rs771328239
rs771328239
SDHA
0.925 0.080 5 233566 stop gained C/A;G;T snv
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		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