rs1210554604
|
|
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 |
rs13102260
|
|
Huntington Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The presence of the rs13102260 minor (A) variant on the HD disease allele was associated with delayed age of onset in familial 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 |
rs1313770
|
|
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 |
rs10015979
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs110501
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs11731237
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs2071655
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs2269499
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs2285086
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs2298969
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs2471347
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs2798296
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs362272
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs363066
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs363092
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs363096
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs3856973
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs6855981
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs71180116
|
|
Huntington Disease
|
CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs71180116
|
|
Huntington Disease
|
CCAGCAGCAGCAGCAGCAGCAGCAG |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs82333
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |
rs916171
|
|
Huntington Disease
|
|
0.700 |
GeneticVariation
|
GWASDB |
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
|
22387017 |
2012 |