rs398122941
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
Make rs398122941(-;-) |
Make rs398122941(-;GT) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 2497713 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs398122941 |
dbSNP (classic) | rs398122941 |
ClinGen | rs398122941 |
ebi | rs398122941 |
HLI | rs398122941 |
Exac | rs398122941 |
Gnomad | rs398122941 |
Varsome | rs398122941 |
LitVar | rs398122941 |
Map | rs398122941 |
PheGenI | rs398122941 |
Biobank | rs398122941 |
1000 genomes | rs398122941 |
hgdp | rs398122941 |
ensembl | rs398122941 |
geneview | rs398122941 |
scholar | rs398122941 |
rs398122941 | |
pharmgkb | rs398122941 |
gwascentral | rs398122941 |
openSNP | rs398122941 |
23andMe | rs398122941 |
SNPshot | rs398122941 |
SNPdbe | rs398122941 |
MSV3d | rs398122941 |
GWAS Ctlg | rs398122941 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122941(-;-) |
Alt | rs398122941(-;-) |
Reference | Rs398122941(GT;GT) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 16 |
Variation | info |
Gene | TBC1D24 |
CLNDBN | Early infantile epileptic encephalopathy 16 |
Reversed | 0 |
HGVS | NC_000016.9:g.2547714_2547715delGT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000050232.4, |