EPO, erythropoietin, 2056

N. diseases: 646; N. variants: 11
Disease: DIAMOND-BLACKFAN ANEMIA-LIKE ×
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: rs1358275550
rs1358275550 		1.000 7 100723081 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C4693556
Disease: DIAMOND-BLACKFAN ANEMIA-LIKE
DIAMOND-BLACKFAN ANEMIA-LIKE 		0.700 0