rs1217364684
HTT;HTT-AS
Amyotrophic Lateral Sclerosis
0.010
GeneticVariation
BEFREE
We also find that neuronal over-expression of CAST in hSOD1(G93A ) transgenic mice inhibited production of putative neurotoxic caspase-cleaved tau and activation of Cdk5, which have been implicated in neurodegeneration in ALS models, and also reduced the formation of SOD1 oligomers.
26756888
2016
rs13102260
HTT;HTT-AS
Huntington Disease
0.010
GeneticVariation
BEFREE
The presence of the rs13102260 minor (A) variant on the HD disease allele was associated with del ayed age of onset in fam ilial cases, whereas the presence of the rs13102260 (A) variant on the wild-type HTT allele was associated with earlier age of onset in HD patients in an extreme case-based cohort.
25938884
2015
rs1210554604
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
Huntington Disease
0.010
GeneticVariation
BEFREE
In order to assess the importance of this pathway in HD pathology, JNK inhibitors including dominant-negative mutants of upstream kinases (ASK1(K709R ), MEKK1(D1369A)), a c-Jun mutant (Delta169c-Jun) and the active domain of the scaffold protein JIP-1/IBI (IBI-JBD) were tested for their ability to mitigate the effect of htt171-82Q.
19022249
2009
rs1313770
HTT;HTT-AS
Huntington Disease
0.010
GeneticVariation
BEFREE
Haplotype A-7-A (H1) was observed in 47 out of 48 phase-known mutant chromosomes, obtained by segregation analysis, through the haplotype analysis of rs1313770 -HD /CCG-rs82334, as it also was in 120 out of 166 chromosomes constructed by means of the PHASE program.
15832309
2005
rs3121419
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
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
rs362275
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
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
rs363092
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
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
rs55962025
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
Waist-Hip Ratio
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs6855981
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
White Blood Cell Count procedure
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs7685686
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
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
rs113928896
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
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
rs362275
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
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
rs362307
HTT;MSANTD1
Intelligence
0.700
GeneticVariation
GWASCAT
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
29844566
2018
rs362272
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
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
rs10015979
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
Huntington Disease
0.700
GeneticVariation
GWASDB
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
22387017
2012
rs110501
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
Huntington Disease
0.700
GeneticVariation
GWASDB
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
22387017
2012
rs11731237
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
Huntington Disease
0.700
GeneticVariation
GWASDB
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
22387017
2012
rs2071655
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
Huntington Disease
0.700
GeneticVariation
GWASDB
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
22387017
2012
rs2269499
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
Huntington Disease
0.700
GeneticVariation
GWASDB
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
22387017
2012
rs2285086
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
Huntington Disease
0.700
GeneticVariation
GWASDB
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
22387017
2012
rs2298969
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
Huntington Disease
0.700
GeneticVariation
GWASDB
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
22387017
2012
rs2471347
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
Huntington Disease
0.700
GeneticVariation
GWASDB
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
22387017
2012
rs2798296
HTT;HTT-AS
Huntington Disease
0.700
GeneticVariation
GWASDB
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
22387017
2012
rs362272
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
Huntington Disease
0.700
GeneticVariation
GWASDB
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
22387017
2012
rs363066
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
Huntington Disease
0.700
GeneticVariation
GWASDB
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
22387017
2012