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: rs1553620318
rs1553620318 		3 10149810 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2004 2016
dbSNP: rs1131690962
rs1131690962 		3 10149829 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2000 2015
dbSNP: rs5030825
rs5030825 		3 10149906 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 4 1994 2013
dbSNP: rs1131690954
rs1131690954 		3 10146639 splice region 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 3 2011 2015
dbSNP: rs1131690960
rs1131690960 		3 10142109 protein altering variant -/GGC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2002 2012
dbSNP: rs1131690961
rs1131690961 		3 10146570 missense variant A/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2010 2015
dbSNP: rs1131690963
rs1131690963 		3 10149904 missense variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs1131690965
rs1131690965 		3 10146511 splice region variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2010 2010
dbSNP: rs1553620312
rs1553620312 		3 10149803 inframe insertion -/ATGCCTCCAGGTTGTCCG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs5030828
rs5030828 		3 10142101 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 1 2014 2014
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: 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: rs730882030
rs730882030 		3 10149935 frameshift variant GC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs730882037
rs730882037 		3 10142026 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: rs730882039
rs730882039 		3 10142066 frameshift variant GG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs104893827
rs104893827 		1.000 0.040 3 10142035 missense variant T/A;C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 1.000 3 2013 2014
dbSNP: rs104893831
rs104893831 		0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2011 2014
dbSNP: rs104893831
rs104893831 		0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.800 1.000 3 2003 2012
dbSNP: rs28940300
rs28940300 		1.000 0.040 3 10149897 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.700 1.000 3 2003 2012
dbSNP: rs28940301
rs28940301 		0.925 0.040 3 10149894 missense variant C/G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		Hemic and Lymphatic Diseases 0.800 1.000 3 2003 2012
dbSNP: rs28940301
rs28940301 		0.925 0.040 3 10149894 missense variant C/G snv
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2014
dbSNP: rs104893831
rs104893831 		0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014