rs606231175
From SNPedia
| Merged into | rs587780668 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common/normal |
| (-;GGCGGCGGGGAGCAGCATGGAGCC) | 5 | Malignant melanoma predisposing mutation |
| Make rs606231175(GGCGGCGGGGAGCAGCATGGAGCC;GGCGGCGGGGAGCAGCATGGAGCC) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 9 |
| Position | 21974819 |
| Gene | CDKN2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs606231175 |
| dbSNP (classic) | rs606231175 |
| ClinGen | rs606231175 |
| ebi | rs606231175 |
| HLI | rs606231175 |
| Exac | rs606231175 |
| Gnomad | rs606231175 |
| Varsome | rs606231175 |
| LitVar | rs606231175 |
| Map | rs606231175 |
| PheGenI | rs606231175 |
| Biobank | rs606231175 |
| 1000 genomes | rs606231175 |
| hgdp | rs606231175 |
| ensembl | rs606231175 |
| geneview | rs606231175 |
| scholar | rs606231175 |
| rs606231175 | |
| pharmgkb | rs606231175 |
| gwascentral | rs606231175 |
| openSNP | rs606231175 |
| 23andMe | rs606231175 |
| SNPshot | rs606231175 |
| SNPdbe | rs606231175 |
| MSV3d | rs606231175 |
| GWAS Ctlg | rs606231175 |
| Status | Merged into rs587780668 |
| Max Magnitude | 5 |
rs606231175, also known as c.-16_8dup24, represents a rare mutation in the CDKN2A gene on chromosome 9.
The rs606231175(dup24) allele is considered pathogenic in a dominant manner for malignant melanoma, based on sources in ClinVar and elsewhere. CDKN2A mutations may also predispose to other types of cancer.[PMID 12072543
],[PMID 16234564]
| ClinVar | |
|---|---|
| Risk | rs606231175(GGCGGCGGGGAGCAGCATGGAGCC;GGCGGCGGGGAGCAGCATGGAGCC) |
| Alt | rs606231175(GGCGGCGGGGAGCAGCATGGAGCC;GGCGGCGGGGAGCAGCATGGAGCC) |
| Reference | rs606231175(;) |
| Significance | Other |
| Disease | Melanoma |
| Variation | info |
| Gene | CDKN2A |
| CLNDBN | Melanoma, cutaneous malignant, susceptibility to, 2 |
| Reversed | 1 |
| HGVS | NC_000009.11:g.21974819_21974842dup24 |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010023.2, |
