SNP Report
Basic Info
| Name | rs1800532 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 11:18026269 - 18026269(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.321086 | ||
| Annotation | downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000528338); upstream_gene_variant(ENST00000525523, ENST00000525406); intron_variant(ENST00000250018, ENST00000417164); NMD_transcript_variant(ENST00000417164) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000250018) | ||
| PolyPhen Annotation | possibly_damaging | ||
| PolyPhen Variant Effect | possibly_damaging(ENST00000250018) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Weak transcription | ||
| No. of Marker's Association Results | 0 (Positive: 0; Negative: 0; Trend: 0) | ||
| Source | LD-proxy | ||
SNP related association results
SNP related genes (count: 2)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| SERGEF | secretion regulating guanine nucleotide exchange factor | 11p14.3 | Mapped by LD-proxy, rSNP target |
| TPH1 | tryptophan hydroxylase 1 | 11p15.3-p14 | 5(1/4/0) |
SNPs in LD with rs1800532 (count: 0)
SNP related eQTL (count: 1)