VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
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: rs104893824
rs104893824 		0.776 0.320 3 10142181 missense variant T/A;C snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs104893826
rs104893826 		0.882 0.200 3 10142038 missense variant G/A;C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.800 0
dbSNP: rs1060503552
rs1060503552 		0.925 0.160 3 10142073 frameshift variant TT/- del
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1060503552
rs1060503552 		0.925 0.160 3 10142073 frameshift variant TT/- del
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1060503555
rs1060503555 		1.000 0.040 3 10146613 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1064793878
rs1064793878 		1.000 0.120 3 10149874 missense variant T/C snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1064796408
rs1064796408 		0.925 0.160 3 10142023 frameshift variant GGCCCGTGCTGCGC/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1064796408
rs1064796408 		0.925 0.160 3 10142023 frameshift variant GGCCCGTGCTGCGC/- delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1131690955
rs1131690955 		3 10146591 frameshift variant -/A ins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690956
rs1131690956 		3 10146531 frameshift variant A/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690958
rs1131690958 		3 10149865 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690959
rs1131690959 		3 10142133 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690964
rs1131690964 		1.000 0.120 3 10142124 frameshift variant G/- delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs119103277
rs119103277 		0.925 0.160 3 10142110 stop gained G/A;C snv
CUI: C1332900
Disease: Cerebellar hemangioblastoma
Cerebellar hemangioblastoma 		Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs119103278
rs119103278 		1.000 0.080 3 10146578 missense variant A/C snv
CUI: C1332900
Disease: Cerebellar hemangioblastoma
Cerebellar hemangioblastoma 		Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs143985153
rs143985153 		1.000 0.120 3 10142116 missense variant A/C;G;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1446876735
rs1446876735 		1.000 0.080 3 10142164 missense variant G/A snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs1553619402
rs1553619402 		1.000 0.120 3 10142035 frameshift variant -/G delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553619415
rs1553619415 		1.000 0.120 3 10142052 frameshift variant -/G delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553619923
rs1553619923 		1.000 0.120 3 10146488 coding sequence variant -/TAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGA delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553619948
rs1553619948 		0.882 0.200 3 10146528 missense variant T/C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0
dbSNP: rs1553619952
rs1553619952 		1.000 0.120 3 10146550 frameshift variant A/- del
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553619957
rs1553619957 		3 10146560 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553619976
rs1553619976 		0.925 0.160 3 10146593 frameshift variant -/A delins
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553619976
rs1553619976 		0.925 0.160 3 10146593 frameshift variant -/A delins
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 0