SNP Report
Basic Info
| Name | rs816356 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 12:117245642 - 117245642(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | A | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.369409 | ||
| Annotation | non_coding_transcript_exon_variant; intron_variant; splice_region_variant; non_coding_transcript_variant | ||
| Variant Effect | non_coding_transcript_exon_variant(ENST00000548625); intron_variant(ENST00000338101, ENST00000344089, ENST00000317775, ENST00000618760); splice_region_variant(ENST00000548625); non_coding_transcript_variant(ENST00000548625) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000338101, ENST00000618760) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000338101, ENST00000618760) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | lncRNA | ||
| 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: 2)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| TCEB1P32 | transcription elongation factor B (SIII), polypeptide 1 pseudogene 32 | 12q24.22 | Mapped by Literature SNP, Mapped by LD-proxy, rSNP target |
| NOS1 | nitric oxide synthase 1 | 12q24.22 | 1(1/0/0) |
SNPs in LD with rs816356 (count: 0)
SNP related eQTL (count: 1)