rs10974947, INSL6;JAK2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.010 GeneticVariation BEFREE Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF. 18006699 2008
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
0.010 GeneticVariation BEFREE Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF. 18006699 2008
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
0.010 GeneticVariation BEFREE Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF. 18006699 2008