JAK1, Janus kinase 1, 3716

N. diseases: 239; N. variants: 41
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs478665
rs478665
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C1443016
Disease:
Estradiol level result 		0.800 GeneticVariation GWASDB TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
dbSNP: rs478665
rs478665
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0337434
Disease:
Estradiol measurement 		0.800 GeneticVariation GWASCAT TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
dbSNP: rs478665
rs478665
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C1443016
Disease:
Estradiol level result 		0.800 GeneticVariation GWASCAT TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
dbSNP: rs478665
rs478665
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0337434
Disease:
Estradiol measurement 		0.800 GeneticVariation GWASDB TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
dbSNP: rs11208552
rs11208552
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs114269697
rs114269697
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0013595
Disease:
Eczema 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs114269697
rs114269697
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4916009
rs4916009
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs555038
rs555038
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs56818621
rs56818621
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0020676
Disease:
Hypothyroidism 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs72920202
rs72920202
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0004364
Disease:
Autoimmune Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs72920202
rs72920202
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C4310768
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs72920202
rs72920202
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C4014795
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs72920202
rs72920202
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9128
rs9128
Entrez Id: 3716;55225
Gene Symbol: JAK1;RAVER2
JAK1;RAVER2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11208534
rs11208534
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs310199
rs310199
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs310201
rs310201
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs310202
rs310202
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs3790541
rs3790541
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs114269697
rs114269697
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0200638
Disease:
Eosinophil count procedure 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs114269697
rs114269697
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0200641
Disease:
Blood basophil count (lab test) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs12408934
rs12408934
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0200641
Disease:
Blood basophil count (lab test) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs12408934
rs12408934
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0200638
Disease:
Eosinophil count procedure 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2780902
rs2780902
Entrez Id: 3716
Gene Symbol: JAK1
JAK1
CUI: C0011881
Disease:
Diabetic Nephropathy 		0.700 GeneticVariation GWASCAT Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND). 26305897 2015