rs5030807, VHL

N. diseases: 5
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 0.851 0.320 3 10142113 missense variant T/A;C snv 0.800 1.000 7 2004 2017
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.851 0.320 3 10142113 missense variant T/A;C snv 0.700 1.000 2 2002 2014
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.851 0.320 3 10142113 missense variant T/A;C snv 0.700 0
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.851 0.320 3 10142113 missense variant T/A;C snv 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.320 3 10142113 missense variant T/A;C snv 0.700 0