rs727505365
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727505365(-;-) |
Make rs727505365(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 2541442 |
Gene | BRAT1 |
is a | snp |
is | mentioned by |
dbSNP | rs727505365 |
dbSNP (classic) | rs727505365 |
ClinGen | rs727505365 |
ebi | rs727505365 |
HLI | rs727505365 |
Exac | rs727505365 |
Gnomad | rs727505365 |
Varsome | rs727505365 |
LitVar | rs727505365 |
Map | rs727505365 |
PheGenI | rs727505365 |
Biobank | rs727505365 |
1000 genomes | rs727505365 |
hgdp | rs727505365 |
ensembl | rs727505365 |
geneview | rs727505365 |
scholar | rs727505365 |
rs727505365 | |
pharmgkb | rs727505365 |
gwascentral | rs727505365 |
openSNP | rs727505365 |
23andMe | rs727505365 |
SNPshot | rs727505365 |
SNPdbe | rs727505365 |
MSV3d | rs727505365 |
GWAS Ctlg | rs727505365 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727505365(-;-) |
Alt | rs727505365(-;-) |
Reference | Rs727505365(G;G) |
Significance | Pathogenic |
Disease | Rigidity and multifocal seizure syndrome |
Variation | info |
Gene | BRAT1 |
CLNDBN | Rigidity and multifocal seizure syndrome, lethal neonatal |
Reversed | 1 |
HGVS | NC_000007.13:g.2581076delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000156938.4, |