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SNP Report
Name | rs770087 dbSNP Ensembl | ||
---|---|---|---|
Location | chr12:89350996 - 89350996(1) | ||
Variant Alleles | A/C | ||
Ancestral Allele | C | ||
Minor Allele | C | ||
Minor Allele Frequence | 0.217452 | ||
Functional Annotation | downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant.
Polyphen Annotation: benign(ENST00000279488, ENST00000547291) SIFT Annotation: tolerated(ENST00000279488, ENST00000547291) |
||
Consequence to Transcript | downstream_gene_variant(ENST00000548755); intron_variant(ENST00000308385); missense_variant(ENST00000279488, ENST00000547291); non_coding_transcript_exon_variant(ENST00000547140); non_coding_transcript_variant(ENST00000547140); upstream_gene_variant(ENST00000611513) | ||
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 = 0.9919, Permutation P-value = 1, X2=0.0001, OR=0.9961; chi-square P-value = 0.4652, Permutation P-value = 0.8983, X2=0.5333, OR=1.559 for female subjects, chi-square P-value = 0.4958, Permutation P-value = 0.9196, X2=0.464, OR=0.7172 for male subjects | showed nominally significant allelic associations with BD, but not with SPR, in female patients | Negative |