rs1064794272, VHL

N. diseases: 6
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 0.807 0.240 3 10146566 missense variant C/A snv 0.720 1.000 19 1993 2011
Carotid Body Paraganglioma
CUI: C0007279
Disease: Carotid Body Paraganglioma
4 0.807 0.240 3 10146566 missense variant C/A snv 0.010 1.000 1 2011 2011
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.807 0.240 3 10146566 missense variant C/A snv 0.010 1.000 1 2006 2006
Hemangioblastoma
CUI: C0206734
Disease: Hemangioblastoma
9 0.807 0.240 3 10146566 missense variant C/A snv 0.010 1.000 1 2011 2011
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
36 0.807 0.240 3 10146566 missense variant C/A snv 0.010 1.000 1 2011 2011
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.807 0.240 3 10146566 missense variant C/A snv 0.010 1.000 1 2006 2006