rs796053384
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs796053384(-;TCGTCCC) |
Make rs796053384(TCGTCCC;TCGTCCC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 127675868 |
Gene | STXBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs796053384 |
dbSNP (classic) | rs796053384 |
ClinGen | rs796053384 |
ebi | rs796053384 |
HLI | rs796053384 |
Exac | rs796053384 |
Gnomad | rs796053384 |
Varsome | rs796053384 |
LitVar | rs796053384 |
Map | rs796053384 |
PheGenI | rs796053384 |
Biobank | rs796053384 |
1000 genomes | rs796053384 |
hgdp | rs796053384 |
ensembl | rs796053384 |
geneview | rs796053384 |
scholar | rs796053384 |
rs796053384 | |
pharmgkb | rs796053384 |
gwascentral | rs796053384 |
openSNP | rs796053384 |
23andMe | rs796053384 |
SNPshot | rs796053384 |
SNPdbe | rs796053384 |
MSV3d | rs796053384 |
GWAS Ctlg | rs796053384 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796053384(TCGTCCC;TCGTCCC) |
Alt | rs796053384(TCGTCCC;TCGTCCC) |
Reference | Rs796053384(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | STXBP1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.130438141_130438147dupTCGTCCC |
CLNSRC | |
CLNACC | RCV000189634.1, |