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SNP Report
Name | rs808820 dbSNP Ensembl | ||
---|---|---|---|
Location | chr12:89351049 - 89351049(1) | ||
Variant Alleles | A/G | ||
Ancestral Allele | G | ||
Minor Allele | G | ||
Minor Allele Frequence | 0.111821 | ||
Functional Annotation | downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; start_lost.
Polyphen Annotation: benign(ENST00000547291) SIFT Annotation: deleterious - low confidence(ENST00000547291) |
||
Consequence to Transcript | downstream_gene_variant(ENST00000548755); intron_variant(ENST00000279488, ENST00000308385, ENST00000547140); non_coding_transcript_exon_variant(ENST00000611513); non_coding_transcript_variant(ENST00000547140, ENST00000611513); start_lost(ENST00000547291) | ||
No. of Studies | 1 (Positive: 1; 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 = 0.9126, Permutation P-value = 0.9994, X2=0.0121, OR=1.047; chi-square P-value = 0.4866, Permutation P-value = 0.9137, X2=0.4841, OR=1.595 for female subjects, chi-square P-value = 0.6207, Permutation P-value = 0.9726, X2=0.2448, OR=0.7687 for male subjects | showed nominally significant allelic associations with BD, but not with SPR, in female patients | Negative |