rs770820144
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs770820144(A;A) |
Make rs770820144(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2496486 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs770820144 |
dbSNP (classic) | rs770820144 |
ClinGen | rs770820144 |
ebi | rs770820144 |
HLI | rs770820144 |
Exac | rs770820144 |
Gnomad | rs770820144 |
Varsome | rs770820144 |
LitVar | rs770820144 |
Map | rs770820144 |
PheGenI | rs770820144 |
Biobank | rs770820144 |
1000 genomes | rs770820144 |
hgdp | rs770820144 |
ensembl | rs770820144 |
geneview | rs770820144 |
scholar | rs770820144 |
rs770820144 | |
pharmgkb | rs770820144 |
gwascentral | rs770820144 |
openSNP | rs770820144 |
23andMe | rs770820144 |
SNPshot | rs770820144 |
SNPdbe | rs770820144 |
MSV3d | rs770820144 |
GWAS Ctlg | rs770820144 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770820144(A;A) |
Alt | rs770820144(A;A) |
Reference | Rs770820144(C;C) |
Significance | Pathogenic |
Disease | Myoclonic epilepsy |
Variation | info |
Gene | TBC1D24 |
CLNDBN | Myoclonic epilepsy, familial infantile |
Reversed | 0 |
HGVS | NC_000016.9:g.2546487C>A |
CLNSRC | |
CLNACC | RCV000196831.1, |