EPO, erythropoietin, 2056

N. diseases: 646; N. variants: 11
Disease: ERYTHROCYTOSIS, FAMILIAL, 5 ×
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: rs11976235
rs11976235 		1.000 7 100722758 missense variant C/T snv 3.5E-03 3.7E-03
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 1.000 2 2016 2018
dbSNP: rs149431976
rs149431976 		1.000 7 100722991 missense variant C/G snv 9.1E-04 6.1E-04
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 1.000 2 2016 2018
dbSNP: rs137953994
rs137953994 		1.000 7 100722667 missense variant G/A;C snv 1.0E-03; 5.3E-05
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 0
dbSNP: rs1554393458
rs1554393458 		1.000 7 100721563 frameshift variant C/- delins
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 0
dbSNP: rs1554393463
rs1554393463 		1.000 7 100721576 frameshift variant G/- delins
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 0
dbSNP: rs62483572
rs62483572 		1.000 7 100722010 missense variant G/A snv 2.4E-03 2.7E-03
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 0