rs5030805, VHL

N. diseases: 7
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 0.790 0.280 3 10142086 missense variant G/A;T snv 0.810 0.875 8 2004 2017
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.790 0.280 3 10142086 missense variant G/A;T snv 0.710 1 2008 2008
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.790 0.280 3 10142086 missense variant G/A;T snv 0.010 1 2008 2008
Childhood Renal Cell Carcinoma
CUI: C1333001
Disease: Childhood Renal Cell Carcinoma
10 0.790 0.280 3 10142086 missense variant G/A;T snv 0.010 1 2008 2008
Hemangioblastoma
CUI: C0206734
Disease: Hemangioblastoma
9 0.790 0.280 3 10142086 missense variant G/A;T snv 0.010 1.000 1 2014 2014
Malignant neoplasm of kidney
CUI: C0740457
Disease: Malignant neoplasm of kidney
22 0.790 0.280 3 10142086 missense variant G/A;T snv 0.010 1 2008 2008
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.790 0.280 3 10142086 missense variant G/A;T snv 0.010 1 2008 2008