rs749995448
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs749995448(A;A) |
| Make rs749995448(A;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 101676673 |
| Gene | GRIK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749995448 |
| dbSNP (classic) | rs749995448 |
| ClinGen | rs749995448 |
| ebi | rs749995448 |
| HLI | rs749995448 |
| Exac | rs749995448 |
| Gnomad | rs749995448 |
| Varsome | rs749995448 |
| LitVar | rs749995448 |
| Map | rs749995448 |
| PheGenI | rs749995448 |
| Biobank | rs749995448 |
| 1000 genomes | rs749995448 |
| hgdp | rs749995448 |
| ensembl | rs749995448 |
| geneview | rs749995448 |
| scholar | rs749995448 |
| rs749995448 | |
| pharmgkb | rs749995448 |
| gwascentral | rs749995448 |
| openSNP | rs749995448 |
| 23andMe | rs749995448 |
| SNPshot | rs749995448 |
| SNPdbe | rs749995448 |
| MSV3d | rs749995448 |
| GWAS Ctlg | rs749995448 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs749995448(A;A) rs749995448(T;T) |
| Alt | rs749995448(A;A) rs749995448(T;T) |
| Reference | Rs749995448(C;C) |
| Significance | Pathogenic |
| Disease | Mental retardation |
| Variation | info |
| Gene | GRIK2 |
| CLNDBN | Mental retardation, autosomal recessive 6 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.102124548C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000169686.3, |
