rs796053340
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGACCAGCT;GGACCAGCT) | 0 | common in clinvar |
Make rs796053340(-;-) |
Make rs796053340(-;ACCAGCTGG) |
Make rs796053340(ACCAGCTGG;ACCAGCTGG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 128632272 |
Gene | SPTAN1 |
is a | snp |
is | mentioned by |
dbSNP | rs796053340 |
dbSNP (classic) | rs796053340 |
ClinGen | rs796053340 |
ebi | rs796053340 |
HLI | rs796053340 |
Exac | rs796053340 |
Gnomad | rs796053340 |
Varsome | rs796053340 |
LitVar | rs796053340 |
Map | rs796053340 |
PheGenI | rs796053340 |
Biobank | rs796053340 |
1000 genomes | rs796053340 |
hgdp | rs796053340 |
ensembl | rs796053340 |
geneview | rs796053340 |
scholar | rs796053340 |
rs796053340 | |
pharmgkb | rs796053340 |
gwascentral | rs796053340 |
openSNP | rs796053340 |
23andMe | rs796053340 |
SNPshot | rs796053340 |
SNPdbe | rs796053340 |
MSV3d | rs796053340 |
GWAS Ctlg | rs796053340 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796053340(-;-) |
Alt | rs796053340(-;-) |
Reference | Rs796053340(GGACCAGCT;GGACCAGCT) |
Significance | Probable-Pathogenic |
Disease | not provided Focal epilepsy |
Variation | info |
Gene | SPTAN1 |
CLNDBN | not provided Focal epilepsy |
Reversed | 0 |
HGVS | NC_000009.11:g.131394551_131394559delACCAGCTGG |
CLNSRC | |
CLNACC | RCV000189555.2, RCV000416957.1, |