Overview

IDAllelesLocationGenome BuildSource
rs4810485T/Gchr20: 4611930838dbsnp146
rs4810485T/G chr20: 44747947 37dbsnp146_grch37
imm_20_44181354A/C chr20: 46119308 38ImmunoChip
imm_20_44181354A/C chr20: 44747947 37ImmunoChip
imm_20_44181354A/C chr20: 44181354 36ImmunoChip

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Historical Ids

Old Marker IDNew Marker IDCurrent Marker IDdbSNP Build
rs56530668rs4810485rs4810485130
rs60204642rs4810485rs4810485130
rs17841920rs4810485rs4810485123

Criteria

rs4810485 meets the following criteria:

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

Functional Information

Gene function properties for rs4810485 as derived from dbSNP:
  • in intron
Gene(s) at location of variation:  CD40 

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 rs4810485, 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.