Source: ALL

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: rs5030818
rs5030818
VHL
0.882 0.280 3 10149804 stop gained C/G;T snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.800 1.000 18 1994 2014
dbSNP: rs5030818
rs5030818
VHL
0.882 0.280 3 10149804 stop gained C/G;T snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.700 1.000 17 1994 2014
dbSNP: rs5030818
rs5030818
VHL
0.882 0.280 3 10149804 stop gained C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 1994 2016
dbSNP: rs5030818
rs5030818
VHL
0.882 0.280 3 10149804 stop gained C/G;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2014 2014