rs752088918
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AT;AT) | 0 | common in clinvar |
| Make rs752088918(-;-) |
| Make rs752088918(-;AT) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 14167223 |
| Gene | XPC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs752088918 |
| dbSNP (classic) | rs752088918 |
| ClinGen | rs752088918 |
| ebi | rs752088918 |
| HLI | rs752088918 |
| Exac | rs752088918 |
| Gnomad | rs752088918 |
| Varsome | rs752088918 |
| LitVar | rs752088918 |
| Map | rs752088918 |
| PheGenI | rs752088918 |
| Biobank | rs752088918 |
| 1000 genomes | rs752088918 |
| hgdp | rs752088918 |
| ensembl | rs752088918 |
| geneview | rs752088918 |
| scholar | rs752088918 |
| rs752088918 | |
| pharmgkb | rs752088918 |
| gwascentral | rs752088918 |
| openSNP | rs752088918 |
| 23andMe | rs752088918 |
| SNPshot | rs752088918 |
| SNPdbe | rs752088918 |
| MSV3d | rs752088918 |
| GWAS Ctlg | rs752088918 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs752088918(-;-) |
| Alt | rs752088918(-;-) |
| Reference | Rs752088918(AT;AT) |
| Significance | Pathogenic |
| Disease | Xeroderma pigmentosum |
| Variation | info |
| Gene | XPC |
| CLNDBN | Xeroderma pigmentosum, group C |
| Reversed | 0 |
| HGVS | NC_000003.11:g.14208723_14208724delAT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000282.2, |
