SNP Report
Basic Info
| Name | rs2006789 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 12:117225876 - 117225876(+) | ||
| Variant Seq | G | ||
| Ancestral Allele | G | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.458666 | ||
| Annotation | intron_variant | ||
| Variant Effect | intron_variant(ENST00000338101, ENST00000317775, ENST00000344089, ENST00000618760) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000618760, ENST00000338101, ENST00000317775, ENST00000344089) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000618760, ENST00000338101, ENST00000317775, ENST00000344089) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Weak transcription;Strong 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)  |
|---|---|---|---|
| NOS1 | nitric oxide synthase 1 | 12q24.22 | 1(1/0/0) |
| FBXO21 | F-box protein 21 | 12q24.23 | rSNP target |
SNPs in LD with rs2006789 (count: 0)
SNP related eQTL (count: 1)