rs137852916
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137852916(A;A) |
Make rs137852916(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 145635451 |
Gene | EPM2A |
is a | snp |
is | mentioned by |
dbSNP | rs137852916 |
dbSNP (classic) | rs137852916 |
ClinGen | rs137852916 |
ebi | rs137852916 |
HLI | rs137852916 |
Exac | rs137852916 |
Gnomad | rs137852916 |
Varsome | rs137852916 |
LitVar | rs137852916 |
Map | rs137852916 |
PheGenI | rs137852916 |
Biobank | rs137852916 |
1000 genomes | rs137852916 |
hgdp | rs137852916 |
ensembl | rs137852916 |
geneview | rs137852916 |
scholar | rs137852916 |
rs137852916 | |
pharmgkb | rs137852916 |
gwascentral | rs137852916 |
openSNP | rs137852916 |
23andMe | rs137852916 |
SNPshot | rs137852916 |
SNPdbe | rs137852916 |
MSV3d | rs137852916 |
GWAS Ctlg | rs137852916 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852916(A;A) |
Alt | rs137852916(A;A) |
Reference | Rs137852916(G;G) |
Significance | Pathogenic |
Disease | Lafora disease Progressive myoclonic epilepsy |
Variation | info |
Gene | EPM2A |
CLNDBN | Lafora disease Progressive myoclonic epilepsy |
Reversed | 1 |
HGVS | NC_000006.11:g.145956587C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003248.6, RCV000469417.1, |