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: rs104893831
rs104893831
VHL
0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
ERYTHROCYTOSIS, FAMILIAL, 2 		0.800 1.000 3 2003 2012
dbSNP: rs104893831
rs104893831
VHL
0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2011 2014
dbSNP: rs104893831
rs104893831
VHL
0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.010 1.000 1 2014 2014
dbSNP: rs104893831
rs104893831
VHL
0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2014 2014