rs1060503228
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1060503228(C;G) |
Make rs1060503228(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 9834148 |
Gene | GRIN2A |
is a | snp |
is | mentioned by |
dbSNP | rs1060503228 |
dbSNP (classic) | rs1060503228 |
ClinGen | rs1060503228 |
ebi | rs1060503228 |
HLI | rs1060503228 |
Exac | rs1060503228 |
Gnomad | rs1060503228 |
Varsome | rs1060503228 |
LitVar | rs1060503228 |
Map | rs1060503228 |
PheGenI | rs1060503228 |
Biobank | rs1060503228 |
1000 genomes | rs1060503228 |
hgdp | rs1060503228 |
ensembl | rs1060503228 |
geneview | rs1060503228 |
scholar | rs1060503228 |
rs1060503228 | |
pharmgkb | rs1060503228 |
gwascentral | rs1060503228 |
openSNP | rs1060503228 |
23andMe | rs1060503228 |
SNPshot | rs1060503228 |
SNPdbe | rs1060503228 |
MSV3d | rs1060503228 |
GWAS Ctlg | rs1060503228 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060503228(G;G) |
Alt | rs1060503228(G;G) |
Reference | Rs1060503228(C;C) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | GRIN2A |
CLNDBN | Epilepsy, focal, with speech disorder and with or without mental retardation |
Reversed | 1 |
HGVS | NC_000016.9:g.9928005G>C |
CLNSRC | |
CLNACC | RCV000473955.1, |