SNP Report
| Name | rs10800465 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 1:162340523 - 162340523(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | T | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.326078 | ||
| Annotation | downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000516453); upstream_gene_variant(ENST00000384996); intron_variant(ENST00000530878, ENST00000430120, ENST00000361897); NMD_transcript_variant(ENST00000430120) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000361897, ENST00000430120, ENST00000530878) | ||
| PolyPhen Annotation | possibly_damaging | ||
| PolyPhen Variant Effect | possibly_damaging(ENST00000361897, ENST00000430120, ENST00000530878) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription | ||
| No. of Marker's Association Results | 1 (Positive: 0; Negative: 1; Trend: 0) | ||
| Source | Literature | ||
The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r2<=0.8.



