rs5030809, VHL

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
187 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.810 1.000 33 1994 2017
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.710 1.000 1 2003 2003
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.700 1.000 9 1995 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.700 1.000 6 2003 2014
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.010 1.000 1 2003 2003
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.010 1.000 1 2003 2003
Hemangioblastoma
CUI: C0206734
Disease: Hemangioblastoma
9 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.010 1.000 1 2003 2003
Intracranial Aneurysm
CUI: C0007766
Disease: Intracranial Aneurysm
150 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.010 1.000 1 2013 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.010 1.000 1 2013 2013
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.010 1.000 1 2003 2003