rs886037942
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs886037942(C;C) |
Make rs886037942(C;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 35315089 |
Gene | SLC1A2 |
is a | snp |
is | mentioned by |
dbSNP | rs886037942 |
dbSNP (classic) | rs886037942 |
ClinGen | rs886037942 |
ebi | rs886037942 |
HLI | rs886037942 |
Exac | rs886037942 |
Gnomad | rs886037942 |
Varsome | rs886037942 |
LitVar | rs886037942 |
Map | rs886037942 |
PheGenI | rs886037942 |
Biobank | rs886037942 |
1000 genomes | rs886037942 |
hgdp | rs886037942 |
ensembl | rs886037942 |
geneview | rs886037942 |
scholar | rs886037942 |
rs886037942 | |
pharmgkb | rs886037942 |
gwascentral | rs886037942 |
openSNP | rs886037942 |
23andMe | rs886037942 |
SNPshot | rs886037942 |
SNPdbe | rs886037942 |
MSV3d | rs886037942 |
GWAS Ctlg | rs886037942 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037942(C;C) |
Alt | rs886037942(C;C) |
Reference | Rs886037942(G;G) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | SLC1A2 |
CLNDBN | Epileptic encephalopathy, early infantile, 41 |
Reversed | 1 |
HGVS | NC_000011.9:g.35336636C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000240886.1, |