rs727502806
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727502806(C;C) |
Make rs727502806(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 30993240 |
Gene | STX1B |
is a | snp |
is | mentioned by |
dbSNP | rs727502806 |
dbSNP (classic) | rs727502806 |
ClinGen | rs727502806 |
ebi | rs727502806 |
HLI | rs727502806 |
Exac | rs727502806 |
Gnomad | rs727502806 |
Varsome | rs727502806 |
LitVar | rs727502806 |
Map | rs727502806 |
PheGenI | rs727502806 |
Biobank | rs727502806 |
1000 genomes | rs727502806 |
hgdp | rs727502806 |
ensembl | rs727502806 |
geneview | rs727502806 |
scholar | rs727502806 |
rs727502806 | |
pharmgkb | rs727502806 |
gwascentral | rs727502806 |
openSNP | rs727502806 |
23andMe | rs727502806 |
SNPshot | rs727502806 |
SNPdbe | rs727502806 |
MSV3d | rs727502806 |
GWAS Ctlg | rs727502806 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502806(C;C) |
Alt | rs727502806(C;C) |
Reference | Rs727502806(G;G) |
Significance | Pathogenic |
Disease | Generalized epilepsy with febrile seizures plus |
Variation | info |
Gene | STX1B |
CLNDBN | Generalized epilepsy with febrile seizures plus, type 9 |
Reversed | 1 |
HGVS | NC_000016.9:g.31004561C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000149794.3, |