rs150203483
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs150203483(C;T) |
Make rs150203483(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 6695759 |
Gene | SLC13A5 |
is a | snp |
is | mentioned by |
dbSNP | rs150203483 |
dbSNP (classic) | rs150203483 |
ClinGen | rs150203483 |
ebi | rs150203483 |
HLI | rs150203483 |
Exac | rs150203483 |
Gnomad | rs150203483 |
Varsome | rs150203483 |
LitVar | rs150203483 |
Map | rs150203483 |
PheGenI | rs150203483 |
Biobank | rs150203483 |
1000 genomes | rs150203483 |
hgdp | rs150203483 |
ensembl | rs150203483 |
geneview | rs150203483 |
scholar | rs150203483 |
rs150203483 | |
pharmgkb | rs150203483 |
gwascentral | rs150203483 |
openSNP | rs150203483 |
23andMe | rs150203483 |
SNPshot | rs150203483 |
SNPdbe | rs150203483 |
MSV3d | rs150203483 |
GWAS Ctlg | rs150203483 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150203483(T;T) |
Alt | rs150203483(T;T) |
Reference | Rs150203483(C;C) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | SLC13A5 |
CLNDBN | Epileptic encephalopathy, early infantile, 25 |
Reversed | 0 |
HGVS | NC_000017.10:g.6599078C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202400.1, |