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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

rs1486736746

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:24764214-24764217 (GRCh38.p14)
Alleles
dupAGCT
Variation Type
Indel Insertion and Deletion
Frequency
dupAGCT=0.000007 (1/140274, GnomAD)
dupAGCT=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PIWIL3 : Intron Variant
TOP1P2 : 2KB Upstream Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315


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Software version is: 2.0.1.post820+afb47a3d