rs80358193, EGLN1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Erythrocytosis, Familial, 3
CUI: C1853286
Disease: Erythrocytosis, Familial, 3
3 0.882 0.080 1 231374041 missense variant G/C snv 0.800 1.000 3 2006 2012
Erythrocytosis familial, 1
CUI: C4551637
Disease: Erythrocytosis familial, 1
14 0.882 0.080 1 231374041 missense variant G/C snv 0.020 1.000 2 2008 2008
Familial erythrocytosis
CUI: C0152264
Disease: Familial erythrocytosis
2 0.882 0.080 1 231374041 missense variant G/C snv 0.020 1.000 2 2008 2008