rs749244650
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs749244650(A;A) |
Make rs749244650(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 127682465 |
Gene | STXBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs749244650 |
dbSNP (classic) | rs749244650 |
ClinGen | rs749244650 |
ebi | rs749244650 |
HLI | rs749244650 |
Exac | rs749244650 |
Gnomad | rs749244650 |
Varsome | rs749244650 |
LitVar | rs749244650 |
Map | rs749244650 |
PheGenI | rs749244650 |
Biobank | rs749244650 |
1000 genomes | rs749244650 |
hgdp | rs749244650 |
ensembl | rs749244650 |
geneview | rs749244650 |
scholar | rs749244650 |
rs749244650 | |
pharmgkb | rs749244650 |
gwascentral | rs749244650 |
openSNP | rs749244650 |
23andMe | rs749244650 |
SNPshot | rs749244650 |
SNPdbe | rs749244650 |
MSV3d | rs749244650 |
GWAS Ctlg | rs749244650 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749244650(A;A) |
Alt | rs749244650(A;A) |
Reference | Rs749244650(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | STXBP1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.130444744G>A |
CLNSRC | |
CLNACC | RCV000189621.1, |