Overview

IDAllelesLocationGenome BuildSource
rs2382817A/Cchr2: 21828649538dbsnp146
rs2382817A/C chr2: 219151218 37dbsnp146_grch37
seq-rs2382817A/C chr2: 218286495 38ImmunoChip
seq-rs2382817A/C chr2: 219151218 37ImmunoChip
seq-rs2382817A/C chr2: 218859462 36ImmunoChip

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Historical Ids

Old Marker IDNew Marker IDCurrent Marker IDdbSNP Build
rs57190284rs2382817rs2382817130

Criteria

rs2382817 meets the following criteria:

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

Functional Information

Gene function properties for rs2382817 as derived from dbSNP:
  • in 5prime gene region
  • in intron
  • in 5prime utr
Gene(s) at location of variation:  PNKD  TMBIM1 

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 rs2382817, 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.