rs863225286
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs863225286(C;C) |
Make rs863225286(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 80202243 |
Gene | PRDM8 |
is a | snp |
is | mentioned by |
dbSNP | rs863225286 |
dbSNP (classic) | rs863225286 |
ClinGen | rs863225286 |
ebi | rs863225286 |
HLI | rs863225286 |
Exac | rs863225286 |
Gnomad | rs863225286 |
Varsome | rs863225286 |
LitVar | rs863225286 |
Map | rs863225286 |
PheGenI | rs863225286 |
Biobank | rs863225286 |
1000 genomes | rs863225286 |
hgdp | rs863225286 |
ensembl | rs863225286 |
geneview | rs863225286 |
scholar | rs863225286 |
rs863225286 | |
pharmgkb | rs863225286 |
gwascentral | rs863225286 |
openSNP | rs863225286 |
23andMe | rs863225286 |
SNPshot | rs863225286 |
SNPdbe | rs863225286 |
MSV3d | rs863225286 |
GWAS Ctlg | rs863225286 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225286(C;C) |
Alt | rs863225286(C;C) |
Reference | Rs863225286(T;T) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | PRDM8 |
CLNDBN | Epilepsy, progressive myoclonic, 10 |
Reversed | 0 |
HGVS | NC_000004.11:g.81123397T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201931.3, |