rs5030818, 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 0.280 3 10149804 stop gained C/G;T snv 0.800 1.000 18 1994 2014
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.882 0.280 3 10149804 stop gained C/G;T snv 0.700 1.000 17 1994 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.280 3 10149804 stop gained C/G;T snv 0.700 1.000 9 1994 2016
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.882 0.280 3 10149804 stop gained C/G;T snv 0.700 1.000 1 2014 2014