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: 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: 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: 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: 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: rs1285132774
rs1285132774
SDHA
0.925 0.080 5 228184 splice acceptor variant G/A;T snv
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 2 2012 2015
dbSNP: rs1285132774
rs1285132774
SDHA
0.925 0.080 5 228184 splice acceptor variant G/A;T snv
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 2 2012 2015
dbSNP: rs137852767
rs137852767
SDHA
0.925 0.120 5 251011 missense variant C/T snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 3 1995 2015
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: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1GG 		0.800 1.000 1 2010 2010
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: rs1393298155
rs1393298155
SDHA
1.000 0.040 5 225998 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0017653
Disease: Glomus Tumor
Glomus Tumor 		0.010 1.000 1 2009 2009
dbSNP: rs1398198098
rs1398198098
SDHA ; CCDC127
1.000 0.120 5 218363 missense variant G/C snv
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.010 1.000 1 2012 2012
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 2011 2017
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.700 1.000 13 2010 2017
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.700 1.000 9 2011 2016
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 4 2010 2017