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. 2009 Aug 7;4(8):e6501. doi: 10.1371/journal.pone.0006501

Table 2. Case – control association results in the region of interest harboring APOE gene.

Gene SNP Coordinate (Build 36.3) Type Consequence Type Allele frequency [%] cases/controls p-Value
TOMM40 rs8102977 50085313 imputed 5′UTR 2.3/1.3 0.3
TOMM40 rs157580 50087106 genotyped intronic 73.8/62.7 1.10×10−3
TOMM40 rs2075650 50087459 genotyped intronic 29.9/15.1 7.48×10−7
TOMM40 rs11556505 50087984 imputed synonymous-coding 26.5/14.3 2.96×10−5
TOMM40 rs8106922 50093506 genotyped intronic 70.6/64.8 0.08
TOMM40 rs1160985 50095252 imputed intronic 58.7/52.0 0.07
APOE rs405509 50100676 genotyped 5′UTR 57.6/49.3 0.02
APOE rs769451 50102751 genotyped intronic 98.8/97.6 0.21
APOE rs429358 50103781 genotyped non-synonymous-coding 41.3/14.9 2.30×10−16
APOE rs7412 50103919 genotyped non-synonymous-coding 97.7/91.9 5.00×10−4
LOC100129500 rs439401 50106291 genotyped intronic 75.0/62.9 4.00×10−4
LOC100129500-APOC1 rs5114 50110286 imputed intronic 1.00/99.5 0.19
LOC100129500-APOC1 rs389261 50112183 imputed intronic 98.3/96.4 0.15
LOC100129500-APOC1 rs10424339 50112333 imputed intronic 99.0/98.9 0.92
LOC100129500-APOC1 rs12721054 50114427 imputed intronic 1.00/99.5 0.2

Case control association analysis in the APOE region with special focus on TOMM40, APOE and APOC1 genes. Gene name, SNP name (rs number), SNP base-pair position (build 36.3), genotype type (either obtained through actual genotyping or through in silico imputation), physical location or SNP function (consequence type), case-control allele frequencies and p-values ordered by base-pair position.