rs724159974
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs724159974(A;A) |
Make rs724159974(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 30993375 |
Gene | STX1B |
is a | snp |
is | mentioned by |
dbSNP | rs724159974 |
dbSNP (classic) | rs724159974 |
ClinGen | rs724159974 |
ebi | rs724159974 |
HLI | rs724159974 |
Exac | rs724159974 |
Gnomad | rs724159974 |
Varsome | rs724159974 |
LitVar | rs724159974 |
Map | rs724159974 |
PheGenI | rs724159974 |
Biobank | rs724159974 |
1000 genomes | rs724159974 |
hgdp | rs724159974 |
ensembl | rs724159974 |
geneview | rs724159974 |
scholar | rs724159974 |
rs724159974 | |
pharmgkb | rs724159974 |
gwascentral | rs724159974 |
openSNP | rs724159974 |
23andMe | rs724159974 |
SNPshot | rs724159974 |
SNPdbe | rs724159974 |
MSV3d | rs724159974 |
GWAS Ctlg | rs724159974 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs724159974(A;A) |
Alt | rs724159974(A;A) |
Reference | Rs724159974(T;T) |
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.31004696A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000149793.3, |