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rs758673417

From SNPedia

Orientationplus
Stabilizedplus
Make rs758673417(-;-)
Make rs758673417(-;AT)
Make rs758673417(AT;AT)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position124824015
GenePOT1
is asnp
is mentioned by
dbSNPrs758673417
dbSNP (old)rs758673417
ClinGenrs758673417
ebirs758673417
HLIrs758673417
Exacrs758673417
Gnomadrs758673417
Varsomers758673417
Maprs758673417
PheGenIrs758673417
Biobankrs758673417
1000 genomesrs758673417
hgdprs758673417
ensemblrs758673417
gopubmedrs758673417
geneviewrs758673417
scholarrs758673417
googlers758673417
pharmgkbrs758673417
gwascentralrs758673417
openSNPrs758673417
23andMers758673417
23andMe allrs758673417
SNP Nexus

SNPshotrs758673417
SNPdbers758673417
MSV3drs758673417
GWAS Ctlgrs758673417
Max Magnitude
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,