rs754532049
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CA;CA) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| Make rs754532049(-;-) |
| Make rs754532049(-;CA) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 14158239 |
| Gene | XPC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs754532049 |
| dbSNP (classic) | rs754532049 |
| ClinGen | rs754532049 |
| ebi | rs754532049 |
| HLI | rs754532049 |
| Exac | rs754532049 |
| Gnomad | rs754532049 |
| Varsome | rs754532049 |
| LitVar | rs754532049 |
| Map | rs754532049 |
| PheGenI | rs754532049 |
| Biobank | rs754532049 |
| 1000 genomes | rs754532049 |
| hgdp | rs754532049 |
| ensembl | rs754532049 |
| geneview | rs754532049 |
| scholar | rs754532049 |
| rs754532049 | |
| pharmgkb | rs754532049 |
| gwascentral | rs754532049 |
| openSNP | rs754532049 |
| 23andMe | rs754532049 |
| SNPshot | rs754532049 |
| SNPdbe | rs754532049 |
| MSV3d | rs754532049 |
| GWAS Ctlg | rs754532049 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs754532049(-;-) |
| Alt | rs754532049(-;-) |
| Reference | Rs754532049(CA;CA) |
| Significance | Pathogenic |
| Disease | Xeroderma pigmentosum |
| Variation | info |
| Gene | XPC |
| CLNDBN | Xeroderma pigmentosum, group C |
| Reversed | 0 |
| HGVS | NC_000003.11:g.14199739_14199740delCA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000286.4, |
