SNP Report
| Name | rs263232 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 8:130795923 - 130795923(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | C | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.0391374 | ||
| Annotation | intron_variant | ||
| Variant Effect | intron_variant(ENST00000286355, ENST00000377928) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000286355, ENST00000377928) | ||
| PolyPhen Annotation | probably_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000286355, ENST00000377928) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription;Enhancers | ||
| No. of Marker's Association Results | 1 (Positive: 0; Negative: 0; Trend: 1) | ||
| 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.



