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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

rs1461911122

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:11393243-11393244 (GRCh38.p14)
Alleles
insAGA / insAGATCGAGAACT
Variation Type
Insertion
Frequency
insAGATCGAGAACT=0.00001 (1/74106, GnomAD)
insAGA=0.00033 (9/27564, 14KJPN)
insAGA=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PRB2 : Inframe Insertion
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