rs28936072
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (T;T) | 0 | common in clinvar |
| Make rs28936072(C;C) |
| Make rs28936072(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | X |
| Position | 154765472 |
| Gene | DKC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28936072 |
| dbSNP (classic) | rs28936072 |
| ClinGen | rs28936072 |
| ebi | rs28936072 |
| HLI | rs28936072 |
| Exac | rs28936072 |
| Gnomad | rs28936072 |
| Varsome | rs28936072 |
| LitVar | rs28936072 |
| Map | rs28936072 |
| PheGenI | rs28936072 |
| Biobank | rs28936072 |
| 1000 genomes | rs28936072 |
| hgdp | rs28936072 |
| ensembl | rs28936072 |
| geneview | rs28936072 |
| scholar | rs28936072 |
| rs28936072 | |
| pharmgkb | rs28936072 |
| gwascentral | rs28936072 |
| openSNP | rs28936072 |
| 23andMe | rs28936072 |
| SNPshot | rs28936072 |
| SNPdbe | rs28936072 |
| MSV3d | rs28936072 |
| GWAS Ctlg | rs28936072 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28936072(G;G) |
| Alt | rs28936072(G;G) |
| Reference | Rs28936072(A;A) |
| Significance | Pathogenic |
| Disease | Hoyeraal Hreidarsson syndrome Dyskeratosis congenita X-linked |
| Variation | info |
| Gene | DKC1 |
| CLNDBN | Hoyeraal Hreidarsson syndrome Dyskeratosis congenita X-linked |
| Reversed | 1 |
| HGVS | NC_000023.10:g.153993747T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000012351.2, RCV000055631.25, |
[PMID 12437656] A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.
