rs587777578
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587777578(A;G) |
Make rs587777578(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 6687641 |
Gene | SLC13A5 |
is a | snp |
is | mentioned by |
dbSNP | rs587777578 |
dbSNP (classic) | rs587777578 |
ClinGen | rs587777578 |
ebi | rs587777578 |
HLI | rs587777578 |
Exac | rs587777578 |
Gnomad | rs587777578 |
Varsome | rs587777578 |
LitVar | rs587777578 |
Map | rs587777578 |
PheGenI | rs587777578 |
Biobank | rs587777578 |
1000 genomes | rs587777578 |
hgdp | rs587777578 |
ensembl | rs587777578 |
geneview | rs587777578 |
scholar | rs587777578 |
rs587777578 | |
pharmgkb | rs587777578 |
gwascentral | rs587777578 |
openSNP | rs587777578 |
23andMe | rs587777578 |
SNPshot | rs587777578 |
SNPdbe | rs587777578 |
MSV3d | rs587777578 |
GWAS Ctlg | rs587777578 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777578(A;A) rs587777578(G;G) |
Alt | Rs587777578(A;A) rs587777578(G;G) |
Reference | Rs587777578(T;T) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | SLC13A5 |
CLNDBN | Epileptic encephalopathy, early infantile, 25 |
Reversed | 1 |
HGVS | NC_000017.10:g.6590960A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128862.4, |