rs137853971
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs137853971(A;G) |
| Make rs137853971(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 58014325 |
| Gene | USB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853971 |
| dbSNP (classic) | rs137853971 |
| ClinGen | rs137853971 |
| ebi | rs137853971 |
| HLI | rs137853971 |
| Exac | rs137853971 |
| Gnomad | rs137853971 |
| Varsome | rs137853971 |
| LitVar | rs137853971 |
| Map | rs137853971 |
| PheGenI | rs137853971 |
| Biobank | rs137853971 |
| 1000 genomes | rs137853971 |
| hgdp | rs137853971 |
| ensembl | rs137853971 |
| geneview | rs137853971 |
| scholar | rs137853971 |
| rs137853971 | |
| pharmgkb | rs137853971 |
| gwascentral | rs137853971 |
| openSNP | rs137853971 |
| 23andMe | rs137853971 |
| SNPshot | rs137853971 |
| SNPdbe | rs137853971 |
| MSV3d | rs137853971 |
| GWAS Ctlg | rs137853971 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137853971(G;G) |
| Alt | rs137853971(G;G) |
| Reference | Rs137853971(A;A) |
| Significance | Pathogenic |
| Disease | Poikiloderma with neutropenia |
| Variation | info |
| Gene | USB1 |
| CLNDBN | Poikiloderma with neutropenia |
| Reversed | 0 |
| HGVS | NC_000016.9:g.58048229A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000226.4, |
[PMID 20004881
] Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.
