Overview

IDAllelesLocationGenome BuildSource
rs2843401T/Cchr1: 259669438dbsnp146
rs2843401T/C chr1: 2528133 37dbsnp146_grch37
imm_1_2517993T/C chr1: 2596694 38ImmunoChip
imm_1_2517993T/C chr1: 2528133 37ImmunoChip
imm_1_2517993T/C chr1: 2517993 36ImmunoChip

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Historical Ids

Old Marker IDNew Marker IDCurrent Marker IDdbSNP Build
rs3748815rs2843401rs2843401108
rs56855364rs2843401rs2843401130

Criteria

rs2843401 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 rs2843401 as derived from dbSNP:
  • in intron
Gene(s) at location of variation:  MMEL1 

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 rs2843401, 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.