SNP Report
Basic Info
| Name | rs12746557 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 1:162264616 - 162264616(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | C | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.348442 | ||
| Annotation | intron_variant; NMD_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000530878, ENST00000430120, ENST00000361897); NMD_transcript_variant(ENST00000430120) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000530878, ENST00000361897, ENST00000430120) | ||
| PolyPhen Annotation | benign; possibly_damaging | ||
| PolyPhen Variant Effect | benign(ENST00000530878); possibly_damaging(ENST00000361897, ENST00000430120) | ||
| 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: 1)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| NOS1AP | nitric oxide synthase 1 adaptor protein | 1q23.3 | 3(3/0/0) |
SNPs in LD with rs12746557 (count: 0)
SNP related eQTL (count: 1)