SNP Report
Basic Info
| Name | rs2220330 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 12:71957928 - 71957928(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | C | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.142971 | ||
| Annotation | intron_variant; non_coding_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000546576, ENST00000333850); non_coding_transcript_variant(ENST00000546576) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000333850) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000333850) | ||
| 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)  |
|---|---|---|---|
| TPH2 | tryptophan hydroxylase 2 | 12q15 | 10(3/7/0) |
SNPs in LD with rs2220330 (count: 0)
SNP related eQTL (count: 1)