rs5030820, VHL

N. diseases: 6
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 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.800 1.000 28 1994 2017
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.800 0
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 1.000 13 1994 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 1.000 12 1994 2017
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 1.000 2 1995 2014
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 0