rs863223401
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs863223401(-;-) |
Make rs863223401(-;AGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 46938612 |
Gene | GOSR2 |
is a | snp |
is | mentioned by |
dbSNP | rs863223401 |
dbSNP (classic) | rs863223401 |
ClinGen | rs863223401 |
ebi | rs863223401 |
HLI | rs863223401 |
Exac | rs863223401 |
Gnomad | rs863223401 |
Varsome | rs863223401 |
LitVar | rs863223401 |
Map | rs863223401 |
PheGenI | rs863223401 |
Biobank | rs863223401 |
1000 genomes | rs863223401 |
hgdp | rs863223401 |
ensembl | rs863223401 |
geneview | rs863223401 |
scholar | rs863223401 |
rs863223401 | |
pharmgkb | rs863223401 |
gwascentral | rs863223401 |
openSNP | rs863223401 |
23andMe | rs863223401 |
SNPshot | rs863223401 |
SNPdbe | rs863223401 |
MSV3d | rs863223401 |
GWAS Ctlg | rs863223401 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223401(-;-) |
Alt | rs863223401(-;-) |
Reference | Rs863223401(AGA;AGA) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | GOSR2 |
CLNDBN | Epilepsy, progressive myoclonic 6 |
Reversed | 0 |
HGVS | NC_000017.10:g.45015978_45015980delAGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190901.3, |