rs5030824, VHL

N. diseases: 9
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 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.810 1.000 14 1994 2013
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.810 1.000 1 2002 2002
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.800 1.000 10 1994 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.700 1.000 14 1994 2013
Kidney Neoplasm
CUI: C0022665
Disease: Kidney Neoplasm
11 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.700 0
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.010 1.000 1 2002 2002
Polycythemia
CUI: C0032461
Disease: Polycythemia
22 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.010 1.000 1 2005 2005
Renal carcinoma
CUI: C1378703
Disease: Renal carcinoma
21 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.010 1.000 1 2001 2001
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.010 1.000 1 2001 2001