Source: CURATED

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: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs551238
rs551238
EPO
0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs551238
rs551238
EPO
0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs551238
rs551238
EPO
0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
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: rs1554393458
rs1554393458
EPO
1.000 7 100721563 frameshift variant C/- delins
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 0
dbSNP: rs1554393463
rs1554393463
EPO
1.000 7 100721576 frameshift variant G/- delins
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 0
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C2675471
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (finding)
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (finding) 		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