Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5030809
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.810 1.000 7 1994 2017
dbSNP: rs5030809
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.710 1.000 0 2003 2003