rs2229089
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2229089(C;T) |
| Make rs2229089(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 3 |
| Position | 14173024 |
| Gene | XPC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2229089 |
| dbSNP (classic) | rs2229089 |
| ClinGen | rs2229089 |
| ebi | rs2229089 |
| HLI | rs2229089 |
| Exac | rs2229089 |
| Gnomad | rs2229089 |
| Varsome | rs2229089 |
| LitVar | rs2229089 |
| Map | rs2229089 |
| PheGenI | rs2229089 |
| Biobank | rs2229089 |
| 1000 genomes | rs2229089 |
| hgdp | rs2229089 |
| ensembl | rs2229089 |
| geneview | rs2229089 |
| scholar | rs2229089 |
| rs2229089 | |
| pharmgkb | rs2229089 |
| gwascentral | rs2229089 |
| openSNP | rs2229089 |
| 23andMe | rs2229089 |
| SNPshot | rs2229089 |
| SNPdbe | rs2229089 |
| MSV3d | rs2229089 |
| GWAS Ctlg | rs2229089 |
| Max Magnitude | 0 |
[PMID 28146470
] Rare and low-frequency coding variants alter human adult height.
| ClinVar | |
|---|---|
| Risk | rs2229089(T;T) |
| Alt | rs2229089(T;T) |
| Reference | Rs2229089(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Xeroderma pigmentosum |
| Variation | info |
| Gene | XPC |
| CLNDBN | not specified Xeroderma pigmentosum |
| Reversed | 1 |
| HGVS | NC_000003.11:g.14214524G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000122333.1, RCV000348650.1, |
