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SNP Report
Name | rs2279574 dbSNP Ensembl | ||
---|---|---|---|
Location | chr12:89351700 - 89351700(1) | ||
Variant Alleles | C/A | ||
Ancestral Allele | C | ||
Minor Allele | A | ||
Minor Allele Frequence | 0.466254 | ||
Functional Annotation | missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant.
Polyphen Annotation: benign(ENST00000279488, ENST00000308385, ENST00000548755) SIFT Annotation: tolerated(ENST00000279488, ENST00000308385, ENST00000548755) |
||
Consequence to Transcript | missense_variant(ENST00000279488, ENST00000308385, ENST00000548755); non_coding_transcript_exon_variant(ENST00000611513); non_coding_transcript_variant(ENST00000611513); upstream_gene_variant(ENST00000547140, ENST00000547291) | ||
No. of Studies | 3 (Positive: 3; Negative: 0; Trend: 0) | ||
Source | Literature | ||
Overlap with SZ? | YES | ||
Overlap with MDD? | NO |
The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r2<=0.8.
Reference | Statistical Result | Description | Result Category |
---|---|---|---|
Kim, S. H., 2012 (a) | chi-square P-value = 0.9205, Permutation P-value = 0.9992, X2=0.01, OR=1.012; chi-square P-value = 0.8087, Permutation P-value = 1, X2=0.0586, OR=1.047 for female subjects, chi-square P-value = 0.7677, Permutation P-value = 0.93, X2=0.0872, OR=0.954 for male subjects | showed nominally significant allelic associations with BD, but not with SPR, in female patients | Negative |
Lee, K. Y., 2006 (a) | allelic P-value = 0.911, genotypic P-value = 0.991 for total patients; allelic P-value = 0.95, genotypic P-value = 0.865 for male patients; allelic P-value = 0.776, genotypic P-value = 0.95 for female patients with schizophrenia | G allele was not different between schizophrenic patients and controls. When allele and genotype distribution were compared between the bipolar and schizophrenia groups, no significant difference was found. However, G allele was observed more commonly in bipolar females than their schizophrenic counterparts. | Negative |