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rs2053149

From SNPedia

Orientationplus
Stabilizedplus
Make rs2053149(C;C)
Make rs2053149(C;T)
Make rs2053149(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position66313845
is asnp
is mentioned by
dbSNPrs2053149
ebirs2053149
HLIrs2053149
Exacrs2053149
Varsomers2053149
Maprs2053149
PheGenIrs2053149
hapmaprs2053149
1000 genomesrs2053149
hgdprs2053149
ensemblrs2053149
gopubmedrs2053149
geneviewrs2053149
scholarrs2053149
googlers2053149
pharmgkbrs2053149
gwascentralrs2053149
openSNPrs2053149
23andMers2053149
23andMe allrs2053149
SNP Nexus

SNPshotrs2053149
SNPdbers2053149
MSV3drs2053149
GWAS Ctlgrs2053149
GMAF0.3531
Max Magnitude
? (C;C) (C;T) (T;T) 28

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 18077426OA-icon.png]

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 18077426OA-icon.png]