SNP Report
Basic Info
| Name | rs9888719 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 15:61196644 - 61196644(+) | ||
| Variant Seq | G | ||
| Ancestral Allele | G | ||
| Ref Seq | T | ||
| Annotation | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000560876); intron_variant(ENST00000558904, ENST00000557822, ENST00000561093, ENST00000335670, ENST00000551975, ENST00000560300, ENST00000559145); NMD_transcript_variant(ENST00000551975); non_coding_transcript_variant(ENST00000557822, ENST00000561093, ENST00000560300, ENST00000559145) | ||
| SIFT Annotation | deleterious_-_low_confidence; tolerated | ||
| SIFT Variant Effect | deleterious_-_low_confidence(ENST00000551975); tolerated(ENST00000335670) | ||
| PolyPhen Annotation | benign; possibly_damaging | ||
| PolyPhen Variant Effect | benign(ENST00000335670); possibly_damaging(ENST00000551975) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription;Enhancers;Flanking Active TSS;Active TSS | ||
| No. of Marker's Association Results | 0 (Positive: 0; Negative: 0; Trend: 0) | ||
| Source | LD-proxy | ||
SNP related association results
SNP related genes (count: 1)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| RORA | RAR related orphan receptor A | 15q21-q22 | 6(4/2/0) |
SNPs in LD with rs9888719 (count: 0)
SNP related eQTL (count: 1)