rs869025667, 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 0.827 0.200 3 10149916 missense variant T/C snv 0.710 1.000 1 2014 2014
Cerebellar hemangioblastoma
CUI: C1332900
Disease: Cerebellar hemangioblastoma
4 0.827 0.200 3 10149916 missense variant T/C snv 0.010 1.000 1 2000 2000
Goldenhar Syndrome
CUI: C0265240
Disease: Goldenhar Syndrome
12 0.827 0.200 3 10149916 missense variant T/C snv 0.010 1.000 1 2014 2014
Hemangioblastoma
CUI: C0206734
Disease: Hemangioblastoma
9 0.827 0.200 3 10149916 missense variant T/C snv 0.010 1.000 1 2014 2014
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.827 0.200 3 10149916 missense variant T/C snv 0.010 1.000 1 2000 2000
Neuroendocrine Tumors
CUI: C0206754
Disease: Neuroendocrine Tumors
20 0.827 0.200 3 10149916 missense variant T/C snv 0.010 1.000 1 2014 2014