SNP Report
| Name | rs12122048 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 1:162361618 - 162361618(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | A | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.314497 | ||
| Annotation | upstream_gene_variant; intron_variant; NMD_transcript_variant | ||
| Variant Effect | upstream_gene_variant(ENST00000431696, ENST00000493151); intron_variant(ENST00000430120, ENST00000530878, ENST00000464284, ENST00000361897); NMD_transcript_variant(ENST00000430120) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000530878, ENST00000430120, ENST00000361897) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000530878, ENST00000430120, ENST00000361897) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | TF binding region | ||
| Chromatin State | Weak transcription;Strong transcription;Enhancers;Flanking Active TSS | ||
| 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.



