rs761917087
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs761917087(A;A) |
Make rs761917087(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 6704000 |
Gene | SLC13A5 |
is a | snp |
is | mentioned by |
dbSNP | rs761917087 |
dbSNP (classic) | rs761917087 |
ClinGen | rs761917087 |
ebi | rs761917087 |
HLI | rs761917087 |
Exac | rs761917087 |
Gnomad | rs761917087 |
Varsome | rs761917087 |
LitVar | rs761917087 |
Map | rs761917087 |
PheGenI | rs761917087 |
Biobank | rs761917087 |
1000 genomes | rs761917087 |
hgdp | rs761917087 |
ensembl | rs761917087 |
geneview | rs761917087 |
scholar | rs761917087 |
rs761917087 | |
pharmgkb | rs761917087 |
gwascentral | rs761917087 |
openSNP | rs761917087 |
23andMe | rs761917087 |
SNPshot | rs761917087 |
SNPdbe | rs761917087 |
MSV3d | rs761917087 |
GWAS Ctlg | rs761917087 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs761917087(A;A) |
Alt | rs761917087(A;A) |
Reference | Rs761917087(G;G) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | SLC13A5 |
CLNDBN | Epileptic encephalopathy, early infantile, 25 |
Reversed | 0 |
HGVS | NC_000017.10:g.6607319G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202397.1, |