Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.710 GeneticVariation BEFREE The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions. 18484677

2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
T 0.710 GeneticVariation CLINVAR

dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
T 0.710 CausalMutation CLINVAR

dbSNP: rs62638745
rs62638745
EPOR
0.700 GeneticVariation UNIPROT Clinical utility gene card for: familial erythrocytosis. 22274579

2012
dbSNP: rs121917830
rs121917830
EPOR
T 0.700 CausalMutation CLINVAR Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis. 17488692

2007
dbSNP: rs121918116
rs121918116
EPOR
T 0.700 CausalMutation CLINVAR Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis. 17488692

2007
dbSNP: rs62638745
rs62638745
EPOR
0.700 GeneticVariation UNIPROT Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. 8608241

1996
dbSNP: rs121917830
rs121917830
EPOR
T 0.700 CausalMutation CLINVAR Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. 8506290

1993
dbSNP: rs62638745
rs62638745
EPOR
0.700 GeneticVariation UNIPROT Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. 8506290

1993
dbSNP: rs121917831
rs121917831
EPOR
C 0.700 GeneticVariation CLINVAR

dbSNP: rs121918116
rs121918116
EPOR
T 0.700 GeneticVariation CLINVAR

dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555716041
rs1555716041
EPOR
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555716045
rs1555716045
EPOR
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1555716047
rs1555716047
EPOR
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs202080221
rs202080221
SH2B3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80358193
rs80358193
EGLN1
0.020 GeneticVariation BEFREE Herein, we examine the biochemical characterization of PHD2 variants, Arg371His and Pro317Arg, identified from patients with familial erythrocytosis. 18834144

2008
dbSNP: rs80358193
rs80358193
EGLN1
0.020 GeneticVariation BEFREE Recently, a missense mutation [c.950C>G (p.Pro317Arg)] in the prolyl hydroxylase domain protein 2 (PHD2) gene, whose encoded protein has HIF-1alpha as a substrate, provided evidence of the PHD2 role in a case of familial erythrocytosis. 17933562

2008
dbSNP: rs150221602
rs150221602
JAK2 ; INSL6
0.010 GeneticVariation BEFREE Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia. 27389715

2016
dbSNP: rs182123615
rs182123615
JAK2 ; INSL6
0.010 GeneticVariation BEFREE The rs182123615 JAK2 variant was described in several contexts including myeloproliferative neoplasms and congenital erythrocytosis and was supposed to be pathogenic. 27106701

2016
dbSNP: rs41316003
rs41316003
JAK2 ; INSL6
0.010 GeneticVariation BEFREE Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia. 27389715

2016