rs796053386
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCA;TCA) | 0 | common in clinvar |
Make rs796053386(-;-) |
Make rs796053386(-;CAT) |
Make rs796053386(CAT;CAT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 127682472 |
Gene | STXBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs796053386 |
dbSNP (classic) | rs796053386 |
ClinGen | rs796053386 |
ebi | rs796053386 |
HLI | rs796053386 |
Exac | rs796053386 |
Gnomad | rs796053386 |
Varsome | rs796053386 |
LitVar | rs796053386 |
Map | rs796053386 |
PheGenI | rs796053386 |
Biobank | rs796053386 |
1000 genomes | rs796053386 |
hgdp | rs796053386 |
ensembl | rs796053386 |
geneview | rs796053386 |
scholar | rs796053386 |
rs796053386 | |
pharmgkb | rs796053386 |
gwascentral | rs796053386 |
openSNP | rs796053386 |
23andMe | rs796053386 |
SNPshot | rs796053386 |
SNPdbe | rs796053386 |
MSV3d | rs796053386 |
GWAS Ctlg | rs796053386 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796053386(-;-) |
Alt | rs796053386(-;-) |
Reference | Rs796053386(TCA;TCA) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | STXBP1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.130444751_130444753delCAT |
CLNSRC | |
CLNACC | RCV000189636.1, |