rs12342421, JAK2;INSL6

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
0.020 GeneticVariation BEFREE With a large sample size, we reported the association between JAK2V617F-positive MPNs and 15 tag JAK2 SNPs and the association of rs12342421 being independent of the JAK2 46/1 haplotype in Hong Kong Chinese population. 25526816 2014
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
0.020 GeneticVariation BEFREE In addition, we established a strong association of SNPs rs12342421 and rs10974944 and their CG haplotype with MPNs and with JAK2 V617F-positive MPNs. 23845539 2013
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
0.010 GeneticVariation BEFREE Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF. 18006699 2008
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
0.010 GeneticVariation BEFREE Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF. 18006699 2008
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.010 GeneticVariation BEFREE Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF. 18006699 2008