rs863224932
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs863224932(C;C) |
Make rs863224932(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2499916 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs863224932 |
dbSNP (classic) | rs863224932 |
ClinGen | rs863224932 |
ebi | rs863224932 |
HLI | rs863224932 |
Exac | rs863224932 |
Gnomad | rs863224932 |
Varsome | rs863224932 |
LitVar | rs863224932 |
Map | rs863224932 |
PheGenI | rs863224932 |
Biobank | rs863224932 |
1000 genomes | rs863224932 |
hgdp | rs863224932 |
ensembl | rs863224932 |
geneview | rs863224932 |
scholar | rs863224932 |
rs863224932 | |
pharmgkb | rs863224932 |
gwascentral | rs863224932 |
openSNP | rs863224932 |
23andMe | rs863224932 |
SNPshot | rs863224932 |
SNPdbe | rs863224932 |
MSV3d | rs863224932 |
GWAS Ctlg | rs863224932 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224932(C;C) |
Alt | rs863224932(C;C) |
Reference | Rs863224932(T;T) |
Significance | Probable-Pathogenic |
Disease | Digitorenocerebral syndrome Early infantile epileptic encephalopathy 16 Myoclonic epilepsy |
Variation | info |
Gene | TBC1D24 |
CLNDBN | Digitorenocerebral syndrome Early infantile epileptic encephalopathy 16 Myoclonic epilepsy, familial infantile |
Reversed | 0 |
HGVS | NC_000016.9:g.2549917T>C |
CLNSRC | |
CLNACC | RCV000200681.1, |