rs144332569
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144332569(C;T) |
Make rs144332569(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 6703031 |
Gene | SLC13A5 |
is a | snp |
is | mentioned by |
dbSNP | rs144332569 |
dbSNP (classic) | rs144332569 |
ClinGen | rs144332569 |
ebi | rs144332569 |
HLI | rs144332569 |
Exac | rs144332569 |
Gnomad | rs144332569 |
Varsome | rs144332569 |
LitVar | rs144332569 |
Map | rs144332569 |
PheGenI | rs144332569 |
Biobank | rs144332569 |
1000 genomes | rs144332569 |
hgdp | rs144332569 |
ensembl | rs144332569 |
geneview | rs144332569 |
scholar | rs144332569 |
rs144332569 | |
pharmgkb | rs144332569 |
gwascentral | rs144332569 |
openSNP | rs144332569 |
23andMe | rs144332569 |
SNPshot | rs144332569 |
SNPdbe | rs144332569 |
MSV3d | rs144332569 |
GWAS Ctlg | rs144332569 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144332569(T;T) |
Alt | rs144332569(T;T) |
Reference | Rs144332569(C;C) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | SLC13A5 |
CLNDBN | Epileptic encephalopathy, early infantile, 25 |
Reversed | 0 |
HGVS | NC_000017.10:g.6606350C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128860.4, |