Overview

IDAllelesLocationGenome BuildSource
rs12103T/Cchr1: 131211438dbsnp146
rs12103T/C chr1: 1247494 37dbsnp146_grch37
rs12103A/G chr1: 1312114 38ImmunoChip
rs12103A/G chr1: 1247494 37ImmunoChip
rs12103A/G chr1: 1237357 36ImmunoChip

Jbrowse

Historical Ids

Old Marker IDNew Marker IDCurrent Marker IDdbSNP Build
rs17850295rs12103rs12103126
rs17850284rs12103rs12103126
rs17858525rs12103rs12103126
rs17350603rs12103rs12103126

Criteria

rs12103 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 rs12103 as derived from dbSNP:
  • in 3prime gene region
  • has synonymous
  • has reference
Gene(s) at location of variation:  MIR6727  CPSF3L  PUSL1 

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 rs12103, 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.