Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786205436
rs786205436 		0.882 0.080 11 112088972 missense variant A/G;T snv
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 1 2015 2015
dbSNP: rs80338844
rs80338844 		0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 1.000 13 2000 2015
dbSNP: rs80338845
rs80338845 		0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 1.000 6 2010 2015
dbSNP: rs202198133
rs202198133 		1.000 0.080 11 112088902 missense variant G/A snv 8.0E-06
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs80338845
rs80338845 		0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		Neoplasms 0.730 1.000 15 2000 2017
dbSNP: rs80338844
rs80338844 		0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		Neoplasms 0.720 1.000 15 2000 2017
dbSNP: rs80338847
rs80338847 		0.882 0.200 11 112094906 missense variant T/C;G snv
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		Neoplasms 0.710 1.000 13 2000 2017
dbSNP: rs1060503770
rs1060503770 		0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.710 1.000 1 2006 2006
dbSNP: rs786205436
rs786205436 		0.882 0.080 11 112088972 missense variant A/G;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.710 1.000 1 2015 2015
dbSNP: rs80338844
rs80338844 		0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 18 2000 2015
dbSNP: rs104894302
rs104894302 		0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		Neoplasms 0.700 1.000 13 2000 2017
dbSNP: rs104894304
rs104894304 		0.827 0.240 11 112094831 missense variant A/G snv
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		Neoplasms 0.700 1.000 13 2000 2017
dbSNP: rs104894304
rs104894304 		0.827 0.240 11 112094831 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 2001 2016
dbSNP: rs80338842
rs80338842 		0.790 0.280 11 112086910 start lost G/A;C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 1.000 11 2001 2012
dbSNP: rs80338842
rs80338842 		0.790 0.280 11 112086910 start lost G/A;C snv
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		Digestive System Diseases; Neoplasms 0.700 1.000 11 2001 2012
dbSNP: rs80338842
rs80338842 		0.790 0.280 11 112086910 start lost G/A;C snv
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 11 2001 2012
dbSNP: rs80338842
rs80338842 		0.790 0.280 11 112086910 start lost G/A;C snv
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 11 2001 2015
dbSNP: rs80338844
rs80338844 		0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		Digestive System Diseases; Neoplasms 0.700 1.000 10 2000 2015
dbSNP: rs80338844
rs80338844 		0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 10 2000 2015
dbSNP: rs104894304
rs104894304 		0.827 0.240 11 112094831 missense variant A/G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 1.000 9 2001 2016
dbSNP: rs104894304
rs104894304 		0.827 0.240 11 112094831 missense variant A/G snv
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		Digestive System Diseases; Neoplasms 0.700 1.000 9 2001 2016
dbSNP: rs104894304
rs104894304 		0.827 0.240 11 112094831 missense variant A/G snv
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 9 2001 2016
dbSNP: rs80338843
rs80338843 		0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 1.000 9 2000 2015
dbSNP: rs80338843
rs80338843 		0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		Digestive System Diseases; Neoplasms 0.700 1.000 9 2000 2015
dbSNP: rs80338843
rs80338843 		0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 9 2000 2015