rs11564717
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs11564717(C;T) |
Make rs11564717(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2165659 |
Gene | TH |
is a | snp |
is | mentioned by |
dbSNP | rs11564717 |
dbSNP (classic) | rs11564717 |
ClinGen | rs11564717 |
ebi | rs11564717 |
HLI | rs11564717 |
Exac | rs11564717 |
Gnomad | rs11564717 |
Varsome | rs11564717 |
LitVar | rs11564717 |
Map | rs11564717 |
PheGenI | rs11564717 |
Biobank | rs11564717 |
1000 genomes | rs11564717 |
hgdp | rs11564717 |
ensembl | rs11564717 |
geneview | rs11564717 |
scholar | rs11564717 |
rs11564717 | |
pharmgkb | rs11564717 |
gwascentral | rs11564717 |
openSNP | rs11564717 |
23andMe | rs11564717 |
SNPshot | rs11564717 |
SNPdbe | rs11564717 |
MSV3d | rs11564717 |
GWAS Ctlg | rs11564717 |
GMAF | 0.007805 |
Max Magnitude | 0 |
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ClinVar | |
---|---|
Risk | rs11564717(T;T) |
Alt | rs11564717(T;T) |
Reference | Rs11564717(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Maturity-onset diabetes of the young Transient Neonatal Diabetes Dystonia |
Variation | info |
Gene | TH |
CLNDBN | not specified Maturity-onset diabetes of the young Transient Neonatal Diabetes, Dominant/Recessive Dystonia |
Reversed | 1 |
HGVS | NC_000011.9:g.2186889G>A |
CLNSRC | |
CLNACC | RCV000253406.1, RCV000289760.1, RCV000325988.1, RCV000468948.1, |