rs1057518331
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GA;GA) | 0 | common in clinvar |
Make rs1057518331(-;-) |
Make rs1057518331(-;AG) |
Make rs1057518331(AG;AG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 127612440 |
Gene | STXBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057518331 |
dbSNP (classic) | rs1057518331 |
ClinGen | rs1057518331 |
ebi | rs1057518331 |
HLI | rs1057518331 |
Exac | rs1057518331 |
Gnomad | rs1057518331 |
Varsome | rs1057518331 |
LitVar | rs1057518331 |
Map | rs1057518331 |
PheGenI | rs1057518331 |
Biobank | rs1057518331 |
1000 genomes | rs1057518331 |
hgdp | rs1057518331 |
ensembl | rs1057518331 |
geneview | rs1057518331 |
scholar | rs1057518331 |
rs1057518331 | |
pharmgkb | rs1057518331 |
gwascentral | rs1057518331 |
openSNP | rs1057518331 |
23andMe | rs1057518331 |
SNPshot | rs1057518331 |
SNPdbe | rs1057518331 |
MSV3d | rs1057518331 |
GWAS Ctlg | rs1057518331 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518331(-;-) |
Alt | rs1057518331(-;-) |
Reference | Rs1057518331(GA;GA) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | STXBP1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.130374719_130374720delAG |
CLNSRC | |
CLNACC | RCV000413061.1, |