rs796053351
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs796053351(A;C) |
Make rs796053351(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 127653713 |
Gene | STXBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs796053351 |
dbSNP (classic) | rs796053351 |
ClinGen | rs796053351 |
ebi | rs796053351 |
HLI | rs796053351 |
Exac | rs796053351 |
Gnomad | rs796053351 |
Varsome | rs796053351 |
LitVar | rs796053351 |
Map | rs796053351 |
PheGenI | rs796053351 |
Biobank | rs796053351 |
1000 genomes | rs796053351 |
hgdp | rs796053351 |
ensembl | rs796053351 |
geneview | rs796053351 |
scholar | rs796053351 |
rs796053351 | |
pharmgkb | rs796053351 |
gwascentral | rs796053351 |
openSNP | rs796053351 |
23andMe | rs796053351 |
SNPshot | rs796053351 |
SNPdbe | rs796053351 |
MSV3d | rs796053351 |
GWAS Ctlg | rs796053351 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796053351(C;C) |
Alt | rs796053351(C;C) |
Reference | Rs796053351(A;A) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | STXBP1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.130415992A>C |
CLNSRC | |
CLNACC | RCV000189594.1, |