HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768047421
rs768047421
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C4479491
Disease:
LOPES-MACIEL-RODAN SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs768047421
rs768047421
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C4479491
Disease:
LOPES-MACIEL-RODAN SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs3121419
rs3121419
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0205682
Disease:
Waist-Hip Ratio 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs362275
rs362275
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0205682
Disease:
Waist-Hip Ratio 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs363092
rs363092
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs55962025
rs55962025
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6855981
rs6855981
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7685686
rs7685686
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C1269683
Disease:
Major Depressive Disorder 		A 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions. 30718901 2019
dbSNP: rs113928896
rs113928896
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs362275
rs362275
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0205682
Disease:
Waist-Hip Ratio 		C 0.700 GeneticVariation GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
dbSNP: rs362307
rs362307
Entrez Id: 3064;345222
Gene Symbol: HTT;MSANTD1
HTT;MSANTD1
CUI: C0021704
Disease:
Intelligence 		0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs362272
rs362272
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0474702
Disease:
Sulfate measurement 		0.700 GeneticVariation GWASCAT From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases. 27412988 2016
dbSNP: rs10015979
rs10015979
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease:
Huntington Disease 		0.700 GeneticVariation GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012
dbSNP: rs110501
rs110501
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease:
Huntington Disease 		0.700 GeneticVariation GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012
dbSNP: rs11731237
rs11731237
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease:
Huntington Disease 		0.700 GeneticVariation GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012
dbSNP: rs2071655
rs2071655
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease:
Huntington Disease 		0.700 GeneticVariation GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012
dbSNP: rs2269499
rs2269499
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease:
Huntington Disease 		0.700 GeneticVariation GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012
dbSNP: rs2285086
rs2285086
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease:
Huntington Disease 		0.700 GeneticVariation GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012
dbSNP: rs2298969
rs2298969
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease:
Huntington Disease 		0.700 GeneticVariation GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012
dbSNP: rs2471347
rs2471347
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease:
Huntington Disease 		0.700 GeneticVariation GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012
dbSNP: rs2798296
rs2798296
Entrez Id: 3064;100750326
Gene Symbol: HTT;HTT-AS
HTT;HTT-AS
CUI: C0020179
Disease:
Huntington Disease 		0.700 GeneticVariation GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012
dbSNP: rs362272
rs362272
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease:
Huntington Disease 		0.700 GeneticVariation GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012
dbSNP: rs363066
rs363066
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease:
Huntington Disease 		0.700 GeneticVariation GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012
dbSNP: rs363092
rs363092
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease:
Huntington Disease 		0.700 GeneticVariation GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012
dbSNP: rs363096
rs363096
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease:
Huntington Disease 		0.700 GeneticVariation GWASDB Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 22387017 2012