rs5030802, VHL

N. diseases: 2
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 1.000 0.120 3 10142055 stop gained G/A;T snv 4.4E-06 0.810 1.000 11 1998 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.120 3 10142055 stop gained G/A;T snv 4.4E-06 0.700 1.000 12 1995 2016