rs1060499659
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1060499659(A;A) |
Make rs1060499659(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 13615170 |
Gene | GRIN2B, LOC105369668 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499659 |
dbSNP (classic) | rs1060499659 |
ClinGen | rs1060499659 |
ebi | rs1060499659 |
HLI | rs1060499659 |
Exac | rs1060499659 |
Gnomad | rs1060499659 |
Varsome | rs1060499659 |
LitVar | rs1060499659 |
Map | rs1060499659 |
PheGenI | rs1060499659 |
Biobank | rs1060499659 |
1000 genomes | rs1060499659 |
hgdp | rs1060499659 |
ensembl | rs1060499659 |
geneview | rs1060499659 |
scholar | rs1060499659 |
rs1060499659 | |
pharmgkb | rs1060499659 |
gwascentral | rs1060499659 |
openSNP | rs1060499659 |
23andMe | rs1060499659 |
SNPshot | rs1060499659 |
SNPdbe | rs1060499659 |
MSV3d | rs1060499659 |
GWAS Ctlg | rs1060499659 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499659(A;A) |
Alt | rs1060499659(A;A) |
Reference | Rs1060499659(G;G) |
Significance | Probable-Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | GRIN2B |
CLNDBN | Epileptic encephalopathy, early infantile, 27 |
Reversed | 1 |
HGVS | NC_000012.11:g.13768104C>T |
CLNSRC | |
CLNACC | RCV000449489.1, |