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, |