Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11976235
rs11976235
EPO
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
EPO
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: rs1358275550
rs1358275550
EPO
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
dbSNP: rs137953994
rs137953994
EPO
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: rs62483572
rs62483572
EPO
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