rs138747073
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs138747073(C;T) |
| Make rs138747073(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 28768479 |
| Gene | FOXG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138747073 |
| dbSNP (classic) | rs138747073 |
| ClinGen | rs138747073 |
| ebi | rs138747073 |
| HLI | rs138747073 |
| Exac | rs138747073 |
| Gnomad | rs138747073 |
| Varsome | rs138747073 |
| LitVar | rs138747073 |
| Map | rs138747073 |
| PheGenI | rs138747073 |
| Biobank | rs138747073 |
| 1000 genomes | rs138747073 |
| hgdp | rs138747073 |
| ensembl | rs138747073 |
| geneview | rs138747073 |
| scholar | rs138747073 |
| rs138747073 | |
| pharmgkb | rs138747073 |
| gwascentral | rs138747073 |
| openSNP | rs138747073 |
| 23andMe | rs138747073 |
| SNPshot | rs138747073 |
| SNPdbe | rs138747073 |
| MSV3d | rs138747073 |
| GWAS Ctlg | rs138747073 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138747073(A;A) rs138747073(G;G) rs138747073(T;T) |
| Alt | rs138747073(A;A) rs138747073(G;G) rs138747073(T;T) |
| Reference | Rs138747073(C;C) |
| Significance | Pathogenic |
| Disease | not provided Rett syndrome not specified |
| Variation | info |
| Gene | FOXG1 |
| CLNDBN | not provided Rett syndrome, congenital variant not specified |
| Reversed | 0 |
| HGVS | NC_000014.8:g.29237685C>A; NC_000014.8:g.29237685C>G; NC_000014.8:g.29237685C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000170069.1, RCV000014886.26, RCV000426372.1, |
