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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

rs1473595366

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:164704503 (GRCh38.p14)
Alleles
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/251290, GnomAD_exome)
C=0.00005 (1/21374, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COBLL1 : Missense 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