rs28940297, 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.
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.882 0.240 3 10149811 missense variant T/C;G snv 0.700 1.000 1 2002 2002
RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
CUI: C4017161
Disease: RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
1 0.882 0.240 3 10149811 missense variant T/C;G snv 0.700 0
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.882 0.240 3 10149811 missense variant T/C;G snv 0.020 1.000 2 2002 2004
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
187 0.882 0.240 3 10149811 missense variant T/C;G snv 0.010 1.000 1 2004 2004