Overview

IDAllelesLocationGenome BuildSource
rs458017T/Cchr6: 11137488838dbsnp146
rs458017T/C chr6: 111696091 37dbsnp146_grch37
rs458017A/G chr6: 111374888 38ImmunoChip
rs458017A/G chr6: 111696091 37ImmunoChip
rs458017A/G chr6: 111802784 36ImmunoChip

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Historical Ids

Old Marker IDNew Marker IDCurrent Marker IDdbSNP Build
rs59783785rs458017rs458017130
rs17539609rs458017rs458017126
rs3194480rs458017rs458017106
rs52811215rs458017rs458017128

Criteria

rs458017 meets the following criteria:

Criteria Name
Details
Disease Tags
Marker is GW-Significant in a Study 
Marker is in r2>0.8 with an index SNP 
Marker is an index SNP in a Region 

Functional Information

Gene function properties for rs458017 as derived from dbSNP:
  • has reference
  • has non-synonymous missense
Gene(s) at location of variation:  REV3L 

Study

Studies containing regions of association that span this marker are shown below. Please note that when making comparisons across studies, that they may vary in terms of size, genotyping platform, and exclusion criteria. If the 'Odds Ratio' is less than 1 then the region is protective (alleles are marked as blue) otherwise it is susceptible (alleles marked as red).

StudyPublicationDiseaseRegionMarkerAllelesP-valueORMAFGene(s)

Populations

Populations data from Ensembl 1000 Genome data release May 2013:

Linkage Disequilibrium Statistics

LD Search Options

Linkage disequilibrium (LD) statistics are calculated for rs458017, using the 1000 genomes data release May 2013. Calculations are performed with the snpStats R library, covering 1Mb either side of the marker; and with the following filters applied: MAF > 0.01, call rate < 0.9, and chi-squared test for deviation from HWE > 25.