rs5030833, VHL

N. diseases: 3
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 0.925 0.160 3 10146580 missense variant T/C;G snv 4.0E-06 0.800 1.000 17 1994 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.160 3 10146580 missense variant T/C;G snv 4.0E-06 0.700 1.000 9 1994 2010
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.925 0.160 3 10146580 missense variant T/C;G snv 4.0E-06 0.700 0