SNP Report
Basic Info
| Name | rs2242593 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 11:113405543 - 113405543(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | T | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.208866 | ||
| Annotation | downstream_gene_variant; intron_variant; non_coding_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000346454, ENST00000362072, ENST00000542968, ENST00000544518); intron_variant(ENST00000546284); non_coding_transcript_variant(ENST00000546284) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000303941) | ||
| PolyPhen Annotation | possibly_damaging | ||
| PolyPhen Variant Effect | possibly_damaging(ENST00000303941) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription;Enhancers | ||
| 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)  |
|---|---|---|---|
| DRD2 | dopamine receptor D2 | 11q23.2 | 18(11/7/0) |
SNPs in LD with rs2242593 (count: 0)
SNP related eQTL (count: 1)