rs672601377
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs672601377(A;T) |
Make rs672601377(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 13608769 |
Gene | GRIN2B, LOC105369668 |
is a | snp |
is | mentioned by |
dbSNP | rs672601377 |
dbSNP (classic) | rs672601377 |
ClinGen | rs672601377 |
ebi | rs672601377 |
HLI | rs672601377 |
Exac | rs672601377 |
Gnomad | rs672601377 |
Varsome | rs672601377 |
LitVar | rs672601377 |
Map | rs672601377 |
PheGenI | rs672601377 |
Biobank | rs672601377 |
1000 genomes | rs672601377 |
hgdp | rs672601377 |
ensembl | rs672601377 |
geneview | rs672601377 |
scholar | rs672601377 |
rs672601377 | |
pharmgkb | rs672601377 |
gwascentral | rs672601377 |
openSNP | rs672601377 |
23andMe | rs672601377 |
SNPshot | rs672601377 |
SNPdbe | rs672601377 |
MSV3d | rs672601377 |
GWAS Ctlg | rs672601377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601377(T;T) |
Alt | rs672601377(T;T) |
Reference | Rs672601377(A;A) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | GRIN2B |
CLNDBN | Epileptic encephalopathy, early infantile, 27 |
Reversed | 1 |
HGVS | NC_000012.11:g.13761703T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000149504.2, |