SNP Report
Basic Info
| Name | rs2056246 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 11:18029899 - 18029899(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | T | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.324481 | ||
| Annotation | intron_variant; NMD_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000250018, ENST00000417164, ENST00000528338); NMD_transcript_variant(ENST00000417164) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000250018, ENST00000528338, ENST00000417164) | ||
| PolyPhen Annotation | benign; probably_damaging; possibly_damaging | ||
| PolyPhen Variant Effect | benign(ENST00000528338); probably_damaging(ENST00000417164); possibly_damaging(ENST00000250018) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| 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: 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 rs2056246 (count: 0)
SNP related eQTL (count: 1)