rs80338752
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80338752(C;T) |
| Make rs80338752(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 169178001 |
| Gene | LRP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338752 |
| dbSNP (classic) | rs80338752 |
| ClinGen | rs80338752 |
| ebi | rs80338752 |
| HLI | rs80338752 |
| Exac | rs80338752 |
| Gnomad | rs80338752 |
| Varsome | rs80338752 |
| LitVar | rs80338752 |
| Map | rs80338752 |
| PheGenI | rs80338752 |
| Biobank | rs80338752 |
| 1000 genomes | rs80338752 |
| hgdp | rs80338752 |
| ensembl | rs80338752 |
| geneview | rs80338752 |
| scholar | rs80338752 |
| rs80338752 | |
| pharmgkb | rs80338752 |
| gwascentral | rs80338752 |
| openSNP | rs80338752 |
| 23andMe | rs80338752 |
| SNPshot | rs80338752 |
| SNPdbe | rs80338752 |
| MSV3d | rs80338752 |
| GWAS Ctlg | rs80338752 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338752(A;A) rs80338752(T;T) |
| Alt | rs80338752(A;A) rs80338752(T;T) |
| Reference | Rs80338752(C;C) |
| Significance | Pathogenic |
| Disease | Donnai Barrow syndrome |
| Variation | info |
| Gene | LRP2 |
| CLNDBN | Donnai Barrow syndrome |
| Reversed | 1 |
| HGVS | NC_000002.11:g.170034511G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010063.5, |
[PMID 8266995] Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
[PMID 17632512
] Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
