rs267607170, 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 0.882 0.200 3 10149814 missense variant A/G snv 0.800 1.000 32 1993 2017
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.882 0.200 3 10149814 missense variant A/G snv 0.010 1.000 1 2010 2010
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.882 0.200 3 10149814 missense variant A/G snv 0.010 1.000 1 2010 2010