rs797045065
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797045065(-;-) |
Make rs797045065(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 64159956 |
Gene | PRICKLE2 |
is a | snp |
is | mentioned by |
dbSNP | rs797045065 |
dbSNP (classic) | rs797045065 |
ClinGen | rs797045065 |
ebi | rs797045065 |
HLI | rs797045065 |
Exac | rs797045065 |
Gnomad | rs797045065 |
Varsome | rs797045065 |
LitVar | rs797045065 |
Map | rs797045065 |
PheGenI | rs797045065 |
Biobank | rs797045065 |
1000 genomes | rs797045065 |
hgdp | rs797045065 |
ensembl | rs797045065 |
geneview | rs797045065 |
scholar | rs797045065 |
rs797045065 | |
pharmgkb | rs797045065 |
gwascentral | rs797045065 |
openSNP | rs797045065 |
23andMe | rs797045065 |
SNPshot | rs797045065 |
SNPdbe | rs797045065 |
MSV3d | rs797045065 |
GWAS Ctlg | rs797045065 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045065(-;-) |
Alt | rs797045065(-;-) |
Reference | Rs797045065(G;G) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | PRICKLE2 |
CLNDBN | Epilepsy, progressive myoclonic 5 |
Reversed | 1 |
HGVS | NC_000003.11:g.64145632delC |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191122.1, |