rs80356539
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in complete genomics |
(GA;GA) | 0 | common in clinvar |
Make rs80356539(-;-) |
Make rs80356539(-;AG) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 42777155 |
Gene | TTBK2 |
is a | snp |
is | mentioned by |
dbSNP | rs80356539 |
dbSNP (classic) | rs80356539 |
ClinGen | rs80356539 |
ebi | rs80356539 |
HLI | rs80356539 |
Exac | rs80356539 |
Gnomad | rs80356539 |
Varsome | rs80356539 |
LitVar | rs80356539 |
Map | rs80356539 |
PheGenI | rs80356539 |
Biobank | rs80356539 |
1000 genomes | rs80356539 |
hgdp | rs80356539 |
ensembl | rs80356539 |
geneview | rs80356539 |
scholar | rs80356539 |
rs80356539 | |
pharmgkb | rs80356539 |
gwascentral | rs80356539 |
openSNP | rs80356539 |
23andMe | rs80356539 |
SNPshot | rs80356539 |
SNPdbe | rs80356539 |
MSV3d | rs80356539 |
GWAS Ctlg | rs80356539 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356539(-;-) |
Alt | rs80356539(-;-) |
Reference | Rs80356539(GA;GA) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 11 |
Variation | info |
Gene | TTBK2 |
CLNDBN | Spinocerebellar ataxia 11 |
Reversed | 1 |
HGVS | NC_000015.9:g.43069353_43069354delCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000896.2, |
[PMID 18037885] Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.