SNP Report
| Name | rs1799913 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 11:18025708 - 18025708(+) | ||
| Variant Seq | A,T | ||
| Ancestral Allele | T | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.321086 | ||
| Annotation | downstream_gene_variant; upstream_gene_variant; intron_variant; splice_region_variant; NMD_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000528338); upstream_gene_variant(ENST00000525523, ENST00000525406); intron_variant(ENST00000417164, ENST00000250018); splice_region_variant(ENST00000417164, ENST00000250018); NMD_transcript_variant(ENST00000417164) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000265965, ENST00000525422, ENST00000528200) | ||
| PolyPhen Annotation | unknown; benign | ||
| PolyPhen Variant Effect | unknown(ENST00000524716); benign(ENST00000265965, ENST00000525422, ENST00000528200) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| 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.



