SNP Report
| Name | rs2267717 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 7:30677427 - 30677427(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.241613 | ||
| Annotation | downstream_gene_variant; intron_variant; NMD_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000445981, ENST00000423776); intron_variant(ENST00000471646, ENST00000341843, ENST00000506074, ENST00000348438, ENST00000452278); NMD_transcript_variant(ENST00000452278) | ||
| SIFT Annotation | tolerated_-_low_confidence; tolerated | ||
| SIFT Variant Effect | tolerated_-_low_confidence(ENST00000506074); tolerated(ENST00000471646) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000506074, ENST00000471646) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Weak transcription | ||
| No. of Marker's Association Results | 1 (Positive: 1; Negative: 0; Trend: 0) | ||
| Source | Literature | ||


