Overview

IDAllelesLocationGenome BuildSource
rs3748817T/Cchr1: 259422638dbsnp146
rs3748817T/C chr1: 2525665 37dbsnp146_grch37
imm_1_2515525A/G chr1: 2594226 38ImmunoChip
imm_1_2515525A/G chr1: 2525665 37ImmunoChip
imm_1_2515525A/G chr1: 2515525 36ImmunoChip

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Historical Ids

Old Marker IDNew Marker IDCurrent Marker IDdbSNP Build
rs118134148rs3748817rs3748817132

Criteria

rs3748817 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 rs3748817 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 rs3748817, 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.