This SNP was identified as a "core" SNP helping to define one (of nine total) runs of homozygosity (ROH) potentially associated with increased risk for schizophrenia. Each region consists of at least 100 consecutive SNPs, generally spanning 500KB or more, for which both chromosomes in an individual were homozygous. The overall odds ratio for schizophrenia associated with inheriting 1, 2, or 3 of these 9 ROHs was calculated to be 3.3, 5.4, or 24, respectively, with 95% confidence intervals of (1.9-5.7), (3.7-16.1), and (6.9-83.9), respectively.[PMID 18077426
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This particular SNP, rs2053149, was deemed to be the core SNP of a region on chromosome 14 with 197 SNPs spanning 1590KB from 14:65475183 to 14:67065410 (build 35). Potentially independent of the ROH, the risk allele for this SNP in the orientation as displayed in HapMap v21a is (C).[PMID 18077426]
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