SNP Report
Basic Info
| Name | rs1323690 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 11:34479140 - 34479140(+) | ||
| Variant Seq | A,C,T | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.366214 | ||
| Annotation | downstream_gene_variant; 3_prime_UTR_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000429939, ENST00000528709); 3_prime_UTR_variant(ENST00000257832, ENST00000312319, ENST00000620316) | ||
| SIFT Annotation | deleterious; tolerated | ||
| SIFT Variant Effect | deleterious(ENST00000620316, ENST00000429939); tolerated(ENST00000257832, ENST00000312319) | ||
| PolyPhen Annotation | probably_damaging; possibly_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000620316); possibly_damaging(ENST00000257832, ENST00000429939, ENST00000312319) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription;Enhancers | ||
| 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)  |
|---|---|---|---|
| ELF5 | E74-like factor 5 (ets domain transcription factor) | 11p13-p12 | Mapped by Literature SNP, Mapped by LD-proxy |
SNPs in LD with rs1323690 (count: 0)
SNP related eQTL (count: 1)