rs397516441, 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 10149790 missense variant A/G snv 0.800 1.000 37 1993 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 3 10149790 missense variant A/G snv 0.700 1.000 13 1998 2014
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.882 0.200 3 10149790 missense variant A/G snv 0.700 1.000 6 2002 2010
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.882 0.200 3 10149790 missense variant A/G snv 0.700 0