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: rs397516441
rs397516441
VHL
0.882 0.200 3 10149790 missense variant A/G snv
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.800 1.000 37 1993 2017
dbSNP: rs397516441
rs397516441
VHL
0.882 0.200 3 10149790 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 1998 2014
dbSNP: rs397516441
rs397516441
VHL
0.882 0.200 3 10149790 missense variant A/G snv
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.700 1.000 6 2002 2010
dbSNP: rs397516441
rs397516441
VHL
0.882 0.200 3 10149790 missense variant A/G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0