rs2303298
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs2303298(A;A) |
| Make rs2303298(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 50623548 |
| Gene | LOC101927089, NRXN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2303298 |
| dbSNP (classic) | rs2303298 |
| ClinGen | rs2303298 |
| ebi | rs2303298 |
| HLI | rs2303298 |
| Exac | rs2303298 |
| Gnomad | rs2303298 |
| Varsome | rs2303298 |
| LitVar | rs2303298 |
| Map | rs2303298 |
| PheGenI | rs2303298 |
| Biobank | rs2303298 |
| 1000 genomes | rs2303298 |
| hgdp | rs2303298 |
| ensembl | rs2303298 |
| geneview | rs2303298 |
| scholar | rs2303298 |
| rs2303298 | |
| pharmgkb | rs2303298 |
| gwascentral | rs2303298 |
| openSNP | rs2303298 |
| 23andMe | rs2303298 |
| SNPshot | rs2303298 |
| SNPdbe | rs2303298 |
| MSV3d | rs2303298 |
| GWAS Ctlg | rs2303298 |
| GMAF | 0.05601 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22405623] Mutation analysis of the NRXN1 gene in a Chinese autism cohort
[PMID 19805132
] Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados.
| ClinVar | |
|---|---|
| Risk | rs2303298(A;A) |
| Alt | rs2303298(A;A) |
| Reference | Rs2303298(G;G) |
| Significance | Other |
| Disease | not specified Pitt-Hopkins-like syndrome Pitt-Hopkins-like syndrome 2 |
| Variation | info |
| Gene | NRXN1 LOC101927089 |
| CLNDBN | not specified Pitt-Hopkins-like syndrome Pitt-Hopkins-like syndrome 2 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.50850686G>A |
| CLNSRC | ClinVar University of Chicago |
| CLNACC | RCV000117844.7, RCV000294841.1, RCV000459957.1, |
