rs121434576
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121434576(A;A) |
| Make rs121434576(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 102868199 |
| Gene | BIVM-ERCC5, ERCC5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434576 |
| dbSNP (classic) | rs121434576 |
| ClinGen | rs121434576 |
| ebi | rs121434576 |
| HLI | rs121434576 |
| Exac | rs121434576 |
| Gnomad | rs121434576 |
| Varsome | rs121434576 |
| LitVar | rs121434576 |
| Map | rs121434576 |
| PheGenI | rs121434576 |
| Biobank | rs121434576 |
| 1000 genomes | rs121434576 |
| hgdp | rs121434576 |
| ensembl | rs121434576 |
| geneview | rs121434576 |
| scholar | rs121434576 |
| rs121434576 | |
| pharmgkb | rs121434576 |
| gwascentral | rs121434576 |
| openSNP | rs121434576 |
| 23andMe | rs121434576 |
| SNPshot | rs121434576 |
| SNPdbe | rs121434576 |
| MSV3d | rs121434576 |
| GWAS Ctlg | rs121434576 |
| Merged from | Rs28929496 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121434576(A;A) |
| Alt | rs121434576(A;A) |
| Reference | Rs121434576(G;G) |
| Significance | Pathogenic |
| Disease | Xeroderma pigmentosum Xeroderma pigmentosum |
| Variation | info |
| Gene | BIVM-ERCC5 ERCC5 |
| CLNDBN | Xeroderma pigmentosum, group G Xeroderma pigmentosum |
| Reversed | 0 |
| HGVS | NC_000013.10:g.103520549G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018045.29, RCV000408066.1, |
