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: rs5030829
rs5030829
VHL
1.000 0.120 3 10142127 stop gained G/A;T snv 4.5E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.700 0
dbSNP: rs5030829
rs5030829
VHL
1.000 0.120 3 10142127 stop gained G/A;T snv 4.5E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0