SNP Report
| Name | rs584007 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 19:44913221 - 44913221(+) | ||
| Variant Seq | G | ||
| Ref Seq | A | ||
| Minor Allele Frequence | 0.402955 | ||
| Annotation | downstream_gene_variant; non_coding_transcript_exon_variant; upstream_gene_variant; non_coding_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000446996, ENST00000425718, ENST00000434152, ENST00000252486); non_coding_transcript_exon_variant(ENST00000623895); upstream_gene_variant(ENST00000592535, ENST00000586638, ENST00000589781, ENST00000588750, ENST00000590334, ENST00000588802, ENST00000592885, ENST00000592176, ENST00000589078); non_coding_transcript_variant(ENST00000623895) | ||
| SIFT Annotation | deleterious_-_low_confidence; deleterious | ||
| SIFT Variant Effect | deleterious_-_low_confidence(ENST00000592885, ENST00000586638); deleterious(ENST00000588750, ENST00000592535, ENST00000588802) | ||
| PolyPhen Annotation | unknown; benign; possibly_damaging | ||
| PolyPhen Variant Effect | unknown(ENST00000586638); benign(ENST00000588750, ENST00000592535, ENST00000588802); possibly_damaging(ENST00000592885) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | TF binding region;Chromatin interactive region | ||
| Chromatin State | Enhancers;Weak transcription;Flanking Active TSS;Bivalent Enhancer | ||
| No. of Marker's Association Results | 2 (Positive: 0; Negative: 2; 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.



