rs758673417
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AT;AT) | 0 | common/normal |
| Make rs758673417(-;-) |
| Make rs758673417(-;AT) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 7 |
| Position | 124824015 |
| Gene | POT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs758673417 |
| dbSNP (classic) | rs758673417 |
| ClinGen | rs758673417 |
| ebi | rs758673417 |
| HLI | rs758673417 |
| Exac | rs758673417 |
| Gnomad | rs758673417 |
| Varsome | rs758673417 |
| LitVar | rs758673417 |
| Map | rs758673417 |
| PheGenI | rs758673417 |
| Biobank | rs758673417 |
| 1000 genomes | rs758673417 |
| hgdp | rs758673417 |
| ensembl | rs758673417 |
| geneview | rs758673417 |
| scholar | rs758673417 |
| rs758673417 | |
| pharmgkb | rs758673417 |
| gwascentral | rs758673417 |
| openSNP | rs758673417 |
| 23andMe | rs758673417 |
| SNPshot | rs758673417 |
| SNPdbe | rs758673417 |
| MSV3d | rs758673417 |
| GWAS Ctlg | rs758673417 |
| Max Magnitude | 0 |
rs758673417, also known as c.1851_1852delTA or p.Asp617GlufsTer9, represents a rare mutation in the POT1 gene on chromosome 7.
Inherited dominantly, the minor allele is reported to increase risk for colorectal cancer. 10.1038/ncomms11883
| ClinVar | |
|---|---|
| Risk | rs758673417(-;-) |
| Alt | rs758673417(-;-) |
| Reference | rs758673417(TA;TA) |
| Significance | Other |
| Disease | Glioma susceptibility 9 |
| Variation | info |
| Gene | POT1 |
| CLNDBN | Glioma susceptibility 9 |
| Reversed | 0 |
| HGVS | NC_000007.13:g.124464069_124464070delTA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000191034.3, |
