rs397514579
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514579(C;T) |
Make rs397514579(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 29813802 |
Gene | PRRT2 |
is a | snp |
is | mentioned by |
dbSNP | rs397514579 |
dbSNP (classic) | rs397514579 |
ClinGen | rs397514579 |
ebi | rs397514579 |
HLI | rs397514579 |
Exac | rs397514579 |
Gnomad | rs397514579 |
Varsome | rs397514579 |
LitVar | rs397514579 |
Map | rs397514579 |
PheGenI | rs397514579 |
Biobank | rs397514579 |
1000 genomes | rs397514579 |
hgdp | rs397514579 |
ensembl | rs397514579 |
geneview | rs397514579 |
scholar | rs397514579 |
rs397514579 | |
pharmgkb | rs397514579 |
gwascentral | rs397514579 |
openSNP | rs397514579 |
23andMe | rs397514579 |
SNPshot | rs397514579 |
SNPdbe | rs397514579 |
MSV3d | rs397514579 |
GWAS Ctlg | rs397514579 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514579(T;T) |
Alt | rs397514579(T;T) |
Reference | Rs397514579(C;C) |
Significance | Pathogenic |
Disease | Dystonia 10 Seizures |
Variation | info |
Gene | LOC100289283 PRRT2 |
CLNDBN | Dystonia 10 Seizures, benign familial infantile, 2 |
Reversed | 0 |
HGVS | NC_000016.9:g.29825123C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032974.3, RCV000032975.3, |