rs104893829, 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 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 0.810 1.000 25 1993 2017
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 0.020 1.000 2 2013 2017
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 0.010 1.000 1 2017 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 0.720 1.000 3 2013 2017