{{Rsnum
|rsid = 17781557
|Status = Merged
|Merged = 1143646
|Gene = HTT
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=G
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Chromosome=4
|position=3146926
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=HTT
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 1.8 | 7.1 | 91.2
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 1.0 | 5.9 | 93.1
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 3.5 | 96.5
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 7.8 | 92.2
| HapMapRevision=28
}}{{Venter SNP
|rsid=17781557
|allele=G
|frequency=
|uid=1103654317787
|type=heterozygous_SNP
|hugo=HD
|ensembl gene=ENSG00000197386
|ensembl transcript=ENST00000355072
|sift=
|disease=Defects in HTT are the cause of Huntington disease (HD) (MIM:143100). HD is an autosomal dominant neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life and symptoms progressively worsen leading to death in 10 to 20 years. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. HD affects 1 in 10,000 individuals of European origin. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, specially in the caudate and putamen (striatum).
}}

{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}