SNP Report
| Name | rs16904179 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 8:129946705 - 129946705(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.132388 | ||
| Annotation | intron_variant; non_coding_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000518283, ENST00000519020, ENST00000522361, ENST00000523288, ENST00000517654, ENST00000518879, ENST00000518167, ENST00000523993, ENST00000521223, ENST00000523509, ENST00000519142, ENST00000401979, ENST00000519110, ENST00000522702, ENST00000520146, ENST00000517672); non_coding_transcript_variant(ENST00000523288, ENST00000518879, ENST00000521223, ENST00000522702, ENST00000520146) | ||
| SIFT Annotation | deleterious_-_low_confidence | ||
| SIFT Variant Effect | deleterious_-_low_confidence(ENST00000615041) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000615041) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Enhancers;Weak transcription;Strong transcription;Bivalent Enhancer | ||
| 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.



