Disease: Erythrocytosis, Familial, 3 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80358193
rs80358193 		0.882 0.080 1 231374041 missense variant G/C snv
CUI: C1853286
Disease: Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 3 		Hemic and Lymphatic Diseases 0.800 1.000 3 2006 2012
dbSNP: rs119476044
rs119476044 		1.000 0.040 1 231370598 missense variant C/T snv
CUI: C1853286
Disease: Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 3 		Hemic and Lymphatic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs119476045
rs119476045 		1.000 0.040 1 231370589 missense variant T/C snv
CUI: C1853286
Disease: Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 3 		Hemic and Lymphatic Diseases 0.700 0