rs879255577
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs879255577(GTTTGGCAG;GTTTGGCAG) |
Make rs879255577(GTTTGGCAG;TGGTGGGGCTTT) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 96115464 |
Gene | ADRA2B |
is a | snp |
is | mentioned by |
dbSNP | rs879255577 |
dbSNP (classic) | rs879255577 |
ClinGen | rs879255577 |
ebi | rs879255577 |
HLI | rs879255577 |
Exac | rs879255577 |
Gnomad | rs879255577 |
Varsome | rs879255577 |
LitVar | rs879255577 |
Map | rs879255577 |
PheGenI | rs879255577 |
Biobank | rs879255577 |
1000 genomes | rs879255577 |
hgdp | rs879255577 |
ensembl | rs879255577 |
geneview | rs879255577 |
scholar | rs879255577 |
rs879255577 | |
pharmgkb | rs879255577 |
gwascentral | rs879255577 |
openSNP | rs879255577 |
23andMe | rs879255577 |
SNPshot | rs879255577 |
SNPdbe | rs879255577 |
MSV3d | rs879255577 |
GWAS Ctlg | rs879255577 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255577(GTTTGGCAG;GTTTGGCAG) |
Alt | rs879255577(GTTTGGCAG;GTTTGGCAG) |
Reference | Rs879255577(TGGTGGGGCTTT;TGGTGGGGCTTT) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | ADRA2B |
CLNDBN | Epilepsy, familial adult myoclonic 2 |
Reversed | 1 |
HGVS | NC_000002.11:g.96781203_96781214delAAAGCCCCACCAinsCTGCCAAAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000172992.2, |