Overview

IDAllelesLocationGenome BuildSource
rs12148472T/Cchr15: 7893913638dbsnp146
rs12148472T/C chr15: 79231478 37dbsnp146_grch37
imm_15_77018533T/C chr15: 78939136 38ImmunoChip
imm_15_77018533T/C chr15: 79231478 37ImmunoChip
imm_15_77018533T/C chr15: 77018533 36ImmunoChip

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Historical Ids

Old Marker IDNew Marker IDCurrent Marker IDdbSNP Build
rs57968432rs12148472rs12148472130

Criteria

rs12148472 meets the following criteria:

Criteria Name
Details
Disease Tags
Marker is an index SNP in a Region 

Functional Information

Gene function properties for rs12148472 as derived from dbSNP:
  • in intron
Gene(s) at location of variation:  CTSH 

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 rs12148472, 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.