rs139747674
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs139747674(C;T) |
Make rs139747674(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 64157305 |
Gene | PRICKLE2 |
is a | snp |
is | mentioned by |
dbSNP | rs139747674 |
dbSNP (classic) | rs139747674 |
ClinGen | rs139747674 |
ebi | rs139747674 |
HLI | rs139747674 |
Exac | rs139747674 |
Gnomad | rs139747674 |
Varsome | rs139747674 |
LitVar | rs139747674 |
Map | rs139747674 |
PheGenI | rs139747674 |
Biobank | rs139747674 |
1000 genomes | rs139747674 |
hgdp | rs139747674 |
ensembl | rs139747674 |
geneview | rs139747674 |
scholar | rs139747674 |
rs139747674 | |
pharmgkb | rs139747674 |
gwascentral | rs139747674 |
openSNP | rs139747674 |
23andMe | rs139747674 |
SNPshot | rs139747674 |
SNPdbe | rs139747674 |
MSV3d | rs139747674 |
GWAS Ctlg | rs139747674 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139747674(T;T) |
Alt | rs139747674(T;T) |
Reference | Rs139747674(C;C) |
Significance | Probable-non-pathogenic |
Disease | Epilepsy not specified |
Variation | info |
Gene | PRICKLE2 |
CLNDBN | Epilepsy, progressive myoclonic 5 not specified |
Reversed | 0 |
HGVS | NC_000003.11:g.64142981C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023709.4, RCV000326248.1, |