rs267607104
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267607104(C;C) |
Make rs267607104(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 2496899 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs267607104 |
dbSNP (classic) | rs267607104 |
ClinGen | rs267607104 |
ebi | rs267607104 |
HLI | rs267607104 |
Exac | rs267607104 |
Gnomad | rs267607104 |
Varsome | rs267607104 |
LitVar | rs267607104 |
Map | rs267607104 |
PheGenI | rs267607104 |
Biobank | rs267607104 |
1000 genomes | rs267607104 |
hgdp | rs267607104 |
ensembl | rs267607104 |
geneview | rs267607104 |
scholar | rs267607104 |
rs267607104 | |
pharmgkb | rs267607104 |
gwascentral | rs267607104 |
openSNP | rs267607104 |
23andMe | rs267607104 |
SNPshot | rs267607104 |
SNPdbe | rs267607104 |
MSV3d | rs267607104 |
GWAS Ctlg | rs267607104 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607104(C;C) |
Alt | rs267607104(C;C) |
Reference | Rs267607104(T;T) |
Significance | Pathogenic |
Disease | Myoclonic epilepsy |
Variation | info |
Gene | TBC1D24 |
CLNDBN | Myoclonic epilepsy, familial infantile |
Reversed | 0 |
HGVS | NC_000016.9:g.2546900T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000067.4, |