SNP Report
| Name | rs1800479 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 2:21004511 - 21004511(+) | ||
| Variant Seq | G | ||
| Ancestral Allele | C | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.124401 | ||
| Annotation | upstream_gene_variant; intron_variant | ||
| Variant Effect | upstream_gene_variant(ENST00000567376); intron_variant(ENST00000616098, ENST00000233242) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000233242) | ||
| PolyPhen Annotation | possibly_damaging | ||
| PolyPhen Variant Effect | possibly_damaging(ENST00000233242) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | TF binding region | ||
| Chromatin State | Weak transcription;Strong transcription;ZNF genes & repeats;Genic enhancers | ||
| 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.



