Overview

IDAllelesLocationGenome BuildSource
rs1292053A/Gchr17: 5988617638dbsnp146
rs1292053A/G chr17: 57963537 37dbsnp146_grch37
rs1292053T/C chr17: 59886176 38ImmunoChip
rs1292053T/C chr17: 57963537 37ImmunoChip
rs1292053T/C chr17: 55318319 36ImmunoChip

Jbrowse

Historical Ids

Old Marker IDNew Marker IDCurrent Marker IDdbSNP Build
rs59005131rs1292053rs1292053130

Criteria

rs1292053 meets the following criteria:

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

Functional Information

Gene function properties for rs1292053 as derived from dbSNP:
  • in intron
  • in 5prime utr
  • has reference
  • has non-synonymous missense
Gene(s) at location of variation:  TUBD1 

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 rs1292053, 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.