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rs17781557

From SNPedia

Merged intors1143646
Orientationplus
Stabilizedplus
Make rs17781557(G;G)
Make rs17781557(G;T)
Make rs17781557(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position3146926
GeneHTT
is asnp
is mentioned by
dbSNPrs17781557
ebirs17781557
HLIrs17781557
Exacrs17781557
Varsomers17781557
Maprs17781557
PheGenIrs17781557
hapmaprs17781557
1000 genomesrs17781557
hgdprs17781557
ensemblrs17781557
gopubmedrs17781557
geneviewrs17781557
scholarrs17781557
googlers17781557
pharmgkbrs17781557
gwascentralrs17781557
openSNPrs17781557
23andMers17781557
23andMe allrs17781557
SNP Nexus

SNPshotrs17781557
SNPdbers17781557
MSV3drs17781557
GWAS Ctlgrs17781557
StatusMerged into rs1143646
Max Magnitude
? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene HD
allele G
frequency
sift
HuRef 1103654317787
Disease Association 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).