SNP Report
Basic Info
| Name | rs2239393 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 22:19962905 - 19962905(+) | ||
| Variant Seq | G | ||
| Ancestral Allele | A | ||
| Ref Seq | A | ||
| Minor Allele Frequence | 0.366414 | ||
| Annotation | downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000467943); upstream_gene_variant(ENST00000428707, ENST00000493893, ENST00000585066); intron_variant(ENST00000449653, ENST00000412786, ENST00000406520, ENST00000403184, ENST00000361682, ENST00000207636, ENST00000407537, ENST00000403710); NMD_transcript_variant(ENST00000207636) | ||
| SIFT Annotation | tolerated_-_low_confidence | ||
| SIFT Variant Effect | tolerated_-_low_confidence(ENST00000403184) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000403184) | ||
| rSNP? | No Link in rVarBase | ||
| Related Regulatory Elements | N.A. | ||
| Chromatin State | N.A. | ||
| No. of Marker's Association Results | 0 (Positive: 0; Negative: 0; Trend: 0) | ||
| Source | LD-proxy | ||
SNP related association results
SNP related genes (count: 1)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| COMT | catechol-O-methyltransferase | 22q11.21 | 21(9/12/0) |
SNPs in LD with rs2239393 (count: 0)
SNP related eQTL (count: 1)