rs5030823, VHL

N. diseases: 4
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.
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 3 1996 2001
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
187 0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 3 1996 2001
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 0.700 0
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 0.700 0