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: 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: 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: 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: 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: rs1159597886
rs1159597886
SDHA
5 256333 splice acceptor variant G/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs137852767
rs137852767
SDHA
0.925 0.120 5 251011 missense variant C/T snv
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 0
dbSNP: rs137852768
rs137852768
SDHA
0.925 0.080 5 251338 missense variant G/A snv 4.1E-06
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.800 0
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		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: C3203483
Disease: Pulmonary chondroma
Pulmonary chondroma 		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: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1GG 		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: 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: 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: 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
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