KANSL1, KAT8 regulatory NSL complex subunit 1, 284058

N. diseases: 140; N. variants: 332
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17577094
rs17577094
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0030567
Disease:
Parkinson Disease
0.800 GeneticVariation GWASCAT Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. 24842889 2014
dbSNP: rs17577094
rs17577094
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0030567
Disease:
Parkinson Disease
0.800 GeneticVariation GWASDB Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. 24842889 2014
dbSNP: rs11653367
rs11653367
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs142920272
rs142920272
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0008074
Disease:
Child Development Disorders, Pervasive
C 0.700 GeneticVariation GWASCAT Identification of common genetic risk variants for autism spectrum disorder. 30804558 2019
dbSNP: rs7225002
rs7225002
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7225002
rs7225002
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7225002
rs7225002
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs78746179
rs78746179
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs78746179
rs78746179
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0023508
Disease:
White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs148910659
rs148910659
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs148910659
rs148910659
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs148910659
rs148910659
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result)
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs7225002
rs7225002
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1269683
Disease:
Major Depressive Disorder
0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs7225002
rs7225002
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0525045
Disease:
Mood Disorders
0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs115231027
rs115231027
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0871470
Disease:
Systolic Pressure
T 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs11654745
rs11654745
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs11654745
rs11654745
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0427460
Disease:
Red cell distribution width determination
A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs2532263
rs2532263
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0678222
Disease:
Breast Carcinoma
G 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs35524223
rs35524223
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0042834
Disease:
Vital capacity
A 0.700 GeneticVariation GWASCAT Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. 28166213 2017
dbSNP: rs35524223
rs35524223
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0016529
Disease:
Forced expiratory volume function
A 0.700 GeneticVariation GWASCAT Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. 28166213 2017
dbSNP: rs8080583
rs8080583
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0021704
Disease:
Intelligence
0.700 GeneticVariation GWASCAT Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. 29186694 2017
dbSNP: rs1427624649
rs1427624649
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. 26306646 2016
dbSNP: rs1555574888
rs1555574888
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0000772
Disease:
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. 26306646 2016
dbSNP: rs1555574888
rs1555574888
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 CausalMutation CLINVAR The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. 26306646 2016
dbSNP: rs201408539
rs201408539
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0029489
Disease:
Other alopecia
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016