SNP Report
Basic Info
| Name | rs2237907 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 11:18027646 - 18027646(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.321885 | ||
| 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(ENST00000417164, ENST00000250018); NMD_transcript_variant(ENST00000417164) | ||
| SIFT Annotation | deleterious; tolerated | ||
| SIFT Variant Effect | deleterious(ENST00000417164); tolerated(ENST00000250018, ENST00000528338) | ||
| PolyPhen Annotation | benign; probably_damaging | ||
| PolyPhen Variant Effect | benign(ENST00000528338); probably_damaging(ENST00000250018, ENST00000417164) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Enhancers;Weak transcription;Active TSS | ||
| 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)  |
|---|---|---|---|
| TPH1 | tryptophan hydroxylase 1 | 11p15.3-p14 | 5(1/4/0) |
SNPs in LD with rs2237907 (count: 0)
SNP related eQTL (count: 1)