EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Disease: Erythrocytosis due to low atmospheric pressure ×
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: rs4953354
rs4953354 		0.827 0.120 2 46348249 intron variant A/G snv 0.22
CUI: C0272139
Disease: Erythrocytosis due to low atmospheric pressure
Erythrocytosis due to low atmospheric pressure 		Hemic and Lymphatic Diseases 0.020 1.000 2 2014 2015
dbSNP: rs1868092
rs1868092 		1.000 0.040 2 46387063 downstream gene variant G/A snv 0.34
CUI: C0272139
Disease: Erythrocytosis due to low atmospheric pressure
Erythrocytosis due to low atmospheric pressure 		Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014