rs104893824, VHL

N. diseases: 8
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 10142181 missense variant T/A;C snv 0.810 1.000 31 1993 2017
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.776 0.320 3 10142181 missense variant T/A;C snv 0.700 0
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003
Hemangioblastoma
CUI: C0206734
Disease: Hemangioblastoma
9 0.776 0.320 3 10142181 missense variant T/A;C snv 0.010 1.000 1 2003 2003
Teratoma
CUI: C0039538
Disease: Teratoma
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.010 1.000 1 2004 2004