rs112111568
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs112111568(A;T) |
Make rs112111568(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 127665245 |
Gene | STXBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs112111568 |
dbSNP (classic) | rs112111568 |
ClinGen | rs112111568 |
ebi | rs112111568 |
HLI | rs112111568 |
Exac | rs112111568 |
Gnomad | rs112111568 |
Varsome | rs112111568 |
LitVar | rs112111568 |
Map | rs112111568 |
PheGenI | rs112111568 |
Biobank | rs112111568 |
1000 genomes | rs112111568 |
hgdp | rs112111568 |
ensembl | rs112111568 |
geneview | rs112111568 |
scholar | rs112111568 |
rs112111568 | |
pharmgkb | rs112111568 |
gwascentral | rs112111568 |
openSNP | rs112111568 |
23andMe | rs112111568 |
SNPshot | rs112111568 |
SNPdbe | rs112111568 |
MSV3d | rs112111568 |
GWAS Ctlg | rs112111568 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112111568(G;G) rs112111568(T;T) |
Alt | rs112111568(G;G) rs112111568(T;T) |
Reference | Rs112111568(A;A) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | STXBP1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.130427524A>G |
CLNSRC | |
CLNACC | RCV000423631.1, |