rs80338758
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80338758(C;T) |
| Make rs80338758(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 71127367 |
| Gene | MED12 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338758 |
| dbSNP (classic) | rs80338758 |
| ClinGen | rs80338758 |
| ebi | rs80338758 |
| HLI | rs80338758 |
| Exac | rs80338758 |
| Gnomad | rs80338758 |
| Varsome | rs80338758 |
| LitVar | rs80338758 |
| Map | rs80338758 |
| PheGenI | rs80338758 |
| Biobank | rs80338758 |
| 1000 genomes | rs80338758 |
| hgdp | rs80338758 |
| ensembl | rs80338758 |
| geneview | rs80338758 |
| scholar | rs80338758 |
| rs80338758 | |
| pharmgkb | rs80338758 |
| gwascentral | rs80338758 |
| openSNP | rs80338758 |
| 23andMe | rs80338758 |
| SNPshot | rs80338758 |
| SNPdbe | rs80338758 |
| MSV3d | rs80338758 |
| GWAS Ctlg | rs80338758 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338758(T;T) |
| Alt | rs80338758(T;T) |
| Reference | Rs80338758(C;C) |
| Significance | Pathogenic |
| Disease | FG syndrome Abnormal facial shape Agenesis of corpus callosum Anal atresia Broad thumb Global developmental delay Intellectual disability |
| Variation | info |
| Gene | MED12 |
| CLNDBN | FG syndrome Abnormal facial shape Agenesis of corpus callosum Anal atresia Broad thumb Global developmental delay Intellectual disability |
| Reversed | 0 |
| HGVS | NC_000023.10:g.70347217C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012276.22, RCV000415294.1, |
[PMID 17334363] A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
