SNP Report
Basic Info
| Name | rs12048687 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 1:162339574 - 162339574(+) | ||
| Variant Seq | G | ||
| Ancestral Allele | T | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.32528 | ||
| Annotation | downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000516453); upstream_gene_variant(ENST00000384996); intron_variant(ENST00000430120, ENST00000530878, ENST00000361897); NMD_transcript_variant(ENST00000430120) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000430120, ENST00000361897, ENST00000530878) | ||
| PolyPhen Annotation | probably_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000430120, ENST00000361897, ENST00000530878) | ||
| 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: 4)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| MIR556 | microRNA 556 | 1q23.3 | Mapped by Literature SNP, Mapped by LD-proxy, rSNP target |
| NOS1AP | nitric oxide synthase 1 adaptor protein | 1q23.3 | 3(3/0/0) |
| RNA5SP61 | RNA, 5S ribosomal pseudogene 61 | 1q23.3 | Mapped by Literature SNP, Mapped by LD-proxy, rSNP target |
| UAP1 | UDP-N-acetylglucosamine pyrophosphorylase 1 | 1q23.2 | rSNP target |
SNPs in LD with rs12048687 (count: 0)
SNP related eQTL (count: 1)