Source: CLINVAR

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: rs5030822
rs5030822
VHL
0.925 0.160 3 10149856 missense variant T/A;C;G snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.800 1.000 4 2004 2017
dbSNP: rs5030822
rs5030822
VHL
0.925 0.160 3 10149856 missense variant T/A;C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1994 2008
dbSNP: rs5030822
rs5030822
VHL
0.925 0.160 3 10149856 missense variant T/A;C;G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.700 1.000 4 2007 2016