rs267607103
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607103(A;A) |
Make rs267607103(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 2496587 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs267607103 |
dbSNP (classic) | rs267607103 |
ClinGen | rs267607103 |
ebi | rs267607103 |
HLI | rs267607103 |
Exac | rs267607103 |
Gnomad | rs267607103 |
Varsome | rs267607103 |
LitVar | rs267607103 |
Map | rs267607103 |
PheGenI | rs267607103 |
Biobank | rs267607103 |
1000 genomes | rs267607103 |
hgdp | rs267607103 |
ensembl | rs267607103 |
geneview | rs267607103 |
scholar | rs267607103 |
rs267607103 | |
pharmgkb | rs267607103 |
gwascentral | rs267607103 |
openSNP | rs267607103 |
23andMe | rs267607103 |
SNPshot | rs267607103 |
SNPdbe | rs267607103 |
MSV3d | rs267607103 |
GWAS Ctlg | rs267607103 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607103(A;A) rs267607103(C;C) |
Alt | rs267607103(A;A) rs267607103(C;C) |
Reference | Rs267607103(G;G) |
Significance | Pathogenic |
Disease | not specified Myoclonic epilepsy |
Variation | info |
Gene | TBC1D24 |
CLNDBN | not specified Myoclonic epilepsy, familial infantile |
Reversed | 0 |
HGVS | NC_000016.9:g.2546588G>A; NC_000016.9:g.2546588G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000221106.1, RCV000000065.3, |