rs8176059
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs8176059(C;T) |
| Make rs8176059(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 142954267 |
| Gene | KEL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8176059 |
| dbSNP (classic) | rs8176059 |
| ClinGen | rs8176059 |
| ebi | rs8176059 |
| HLI | rs8176059 |
| Exac | rs8176059 |
| Gnomad | rs8176059 |
| Varsome | rs8176059 |
| LitVar | rs8176059 |
| Map | rs8176059 |
| PheGenI | rs8176059 |
| Biobank | rs8176059 |
| 1000 genomes | rs8176059 |
| hgdp | rs8176059 |
| ensembl | rs8176059 |
| geneview | rs8176059 |
| scholar | rs8176059 |
| rs8176059 | |
| pharmgkb | rs8176059 |
| gwascentral | rs8176059 |
| openSNP | rs8176059 |
| 23andMe | rs8176059 |
| SNPshot | rs8176059 |
| SNPdbe | rs8176059 |
| MSV3d | rs8176059 |
| GWAS Ctlg | rs8176059 |
| GMAF | 0.00551 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs8176059(T;T) |
| Alt | rs8176059(T;T) |
| Reference | Rs8176059(C;C) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | KEL |
| CLNDBN | |
| Reversed | 1 |
| HGVS | NC_000007.13:g.142651354G>A |
| CLNSRC | |
| CLNACC | |
[PMID 21257350
] DNA-based methods in the immunohematology reference laboratory.
[PMID 8669078] Point mutations characterize KEL10, the KEL3, KEL4, and KEL21 alleles, and the KEL17 and KEL11 alleles.
[PMID 17381630] Genetic diversity of KELnull and KELel: a nationwide Austrian survey.
