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: rs1045881797
rs1045881797 		1.000 0.080 1 17024062 stop gained C/A;T snv 8.0E-06 7.0E-06
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503751
rs1060503751 		0.882 0.080 1 17028691 frameshift variant AG/- delins
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503752
rs1060503752 		0.925 0.080 1 17023994 frameshift variant CA/- del
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503752
rs1060503752 		0.925 0.080 1 17023994 frameshift variant CA/- del
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1060503752
rs1060503752 		0.925 0.080 1 17023994 frameshift variant CA/- del
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1060503753
rs1060503753 		0.925 0.080 1 17027790 stop gained T/A snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1060503753
rs1060503753 		0.925 0.080 1 17027790 stop gained T/A snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1060503753
rs1060503753 		0.925 0.080 1 17027790 stop gained T/A snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503757
rs1060503757 		0.882 0.080 1 17024024 frameshift variant G/- delins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503759
rs1060503759 		0.925 0.080 1 17024013 stop gained C/T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1060503759
rs1060503759 		0.925 0.080 1 17024013 stop gained C/T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503759
rs1060503759 		0.925 0.080 1 17024013 stop gained C/T snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1060503762
rs1060503762 		0.925 0.080 1 17044820 stop gained C/T snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1060503762
rs1060503762 		0.925 0.080 1 17044820 stop gained C/T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1060503762
rs1060503762 		0.925 0.080 1 17044820 stop gained C/T snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503763
rs1060503763 		0.925 0.080 1 17027848 stop gained A/C snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1060503763
rs1060503763 		0.925 0.080 1 17027848 stop gained A/C snv
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503763
rs1060503763 		0.925 0.080 1 17027848 stop gained A/C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1060503764
rs1060503764 		0.925 0.080 1 17022655 frameshift variant -/A delins
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1060503764
rs1060503764 		0.925 0.080 1 17022655 frameshift variant -/A delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1060503764
rs1060503764 		0.925 0.080 1 17022655 frameshift variant -/A delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503767
rs1060503767 		1.000 0.080 1 17053997 frameshift variant AG/- delins
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1064794270
rs1064794270 		1 17028738 splice acceptor variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs111430410
rs111430410 		1.000 0.080 1 17053988 missense variant C/T snv 3.9E-04 1.8E-03
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691047
rs1131691047 		1 17023976 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0