rs730882073
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730882073(-;-) |
Make rs730882073(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 29813345 |
Gene | PRRT2 |
is a | snp |
is | mentioned by |
dbSNP | rs730882073 |
dbSNP (classic) | rs730882073 |
ClinGen | rs730882073 |
ebi | rs730882073 |
HLI | rs730882073 |
Exac | rs730882073 |
Gnomad | rs730882073 |
Varsome | rs730882073 |
LitVar | rs730882073 |
Map | rs730882073 |
PheGenI | rs730882073 |
Biobank | rs730882073 |
1000 genomes | rs730882073 |
hgdp | rs730882073 |
ensembl | rs730882073 |
geneview | rs730882073 |
scholar | rs730882073 |
rs730882073 | |
pharmgkb | rs730882073 |
gwascentral | rs730882073 |
openSNP | rs730882073 |
23andMe | rs730882073 |
SNPshot | rs730882073 |
SNPdbe | rs730882073 |
MSV3d | rs730882073 |
GWAS Ctlg | rs730882073 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882073(-;-) |
Alt | rs730882073(-;-) |
Reference | Rs730882073(C;C) |
Significance | Pathogenic |
Disease | Seizures |
Variation | info |
Gene | LOC100289283 PRRT2 |
CLNDBN | Seizures, benign familial infantile, 2 |
Reversed | 0 |
HGVS | NC_000016.9:g.29824666delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032973.4, |