rs5030827, 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.
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
187 0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 0.800 1.000 16 1995 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 0.700 1.000 7 1995 2016
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 0.010 1.000 1 2006 2006
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 0.010 1.000 1 2006 2006