Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025650
rs869025650
VHL
0.010 GeneticVariation BEFREE In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg). 15921386

2005

dbSNP: rs869025650
rs869025650
VHL
0.010 GeneticVariation BEFREE In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg). 15921386

2005

dbSNP: rs142094773
rs142094773
0.010 GeneticVariation BEFREE However, the Epo-R mutation (N487S) that we describe is located in the same tyrosine sequence beginning at AA 485 as the one previously observed (P488S) in as case of polycythemia (Sokol et al, Exp Hematol 22:447, 1994). 8608241

1996

dbSNP: rs62638745
rs62638745
0.010 GeneticVariation BEFREE However, the Epo-R mutation (N487S) that we describe is located in the same tyrosine sequence beginning at AA 485 as the one previously observed (P488S) in as case of polycythemia (Sokol et al, Exp Hematol 22:447, 1994). 8608241

1996

dbSNP: rs33927093
rs33927093
HBB
0.010 GeneticVariation BEFREE Hb Puttelange [beta 140(H18)Ala-->Val] was found as a de novo mutation in two siblings of a French family suffering from polycythemia. 8522332

1995

dbSNP: rs35594230
rs35594230
HBB
0.010 GeneticVariation BEFREE Hb Puttelange [beta 140(H18)Ala-->Val] was found as a de novo mutation in two siblings of a French family suffering from polycythemia. 8522332

1995

dbSNP: rs754190776
rs754190776
0.010 GeneticVariation BEFREE A new abnormal hemoglobin, Hb Villejuif [beta 123(H1) Thr----Ile] has been discovered during the exploration of a polycythemia in a 87-year-old patient of French origin. 2816924

1989