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: 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: 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
dbSNP: rs104894306
rs104894306 		0.882 0.200 11 112087868 stop gained C/T 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 7 2001 2012
dbSNP: rs104894306
rs104894306 		0.882 0.200 11 112087868 stop gained C/T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 1.000 7 2001 2012
dbSNP: rs104894306
rs104894306 		0.882 0.200 11 112087868 stop gained C/T snv
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		Digestive System Diseases; Neoplasms 0.700 1.000 7 2001 2012
dbSNP: rs104894307
rs104894307 		0.851 0.200 11 112086908 start lost A/G;T snv 8.0E-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 7 2001 2012
dbSNP: rs104894307
rs104894307 		0.851 0.200 11 112086908 start lost A/G;T snv 8.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 1.000 7 2001 2012
dbSNP: rs104894307
rs104894307 		0.851 0.200 11 112086908 start lost A/G;T snv 8.0E-06
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		Digestive System Diseases; Neoplasms 0.700 1.000 7 2001 2012
dbSNP: rs80338843
rs80338843 		0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 2000 2012
dbSNP: rs80338843
rs80338843 		0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 2000 2010
dbSNP: rs104894306
rs104894306 		0.882 0.200 11 112087868 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2001 2012
dbSNP: rs104894308
rs104894308 		0.882 0.200 11 112087933 stop gained G/A 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 6 2002 2010
dbSNP: rs104894308
rs104894308 		0.882 0.200 11 112087933 stop gained G/A snv
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		Digestive System Diseases; Neoplasms 0.700 1.000 6 2002 2010
dbSNP: rs104894308
rs104894308 		0.882 0.200 11 112087933 stop gained G/A snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 1.000 6 2002 2010
dbSNP: rs587776649
rs587776649 		0.851 0.240 11 112087861 frameshift variant G/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2007 2015
dbSNP: rs80338842
rs80338842 		0.790 0.280 11 112086910 start lost G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2001 2012
dbSNP: rs104894309
rs104894309 		0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2002 2016
dbSNP: rs397514034
rs397514034 		0.882 0.200 11 112087896 frameshift variant TC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2001 2010
dbSNP: rs104894309
rs104894309 		0.851 0.200 11 112086940 stop gained C/A;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 2 2002 2008
dbSNP: rs104894309
rs104894309 		0.851 0.200 11 112086940 stop gained C/A;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 2 2002 2008