rs730882035, VHL

N. diseases: 3
Source: INFERRED ×
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
0.807 0.200 3 10149805 missense variant G/A snv 0.850 1.000 9 1995 2017
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
0.807 0.200 3 10149805 missense variant G/A snv 0.700 1.000 9 1995 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.807 0.200 3 10149805 missense variant G/A snv 0.700 1.000 9 1995 2016