SNP Report
| Name | rs1124492 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 11:113411553 - 113411553(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | C | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.29992 | ||
| Annotation | downstream_gene_variant; non_coding_transcript_exon_variant; intron_variant; non_coding_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000539420, ENST00000535984, ENST00000540600); non_coding_transcript_exon_variant(ENST00000546284); intron_variant(ENST00000544518, ENST00000542968, ENST00000346454, ENST00000538967, ENST00000362072); non_coding_transcript_variant(ENST00000546284) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000542968, ENST00000346454, ENST00000538967, ENST00000362072, ENST00000544518) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000542968, ENST00000346454, ENST00000538967, ENST00000362072, ENST00000544518) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | lncRNA | ||
| 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.



