SNP Report
Basic Info
| Name | rs56228130 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 13:49715034 - 49715034(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | A | ||
| Ref Seq | A | ||
| Minor Allele Frequence | 0.130391 | ||
| Annotation | intron_variant | ||
| Variant Effect | intron_variant(ENST00000261667) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000261667) | ||
| PolyPhen Annotation | probably_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000261667) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Weak transcription;ZNF genes & repeats;Strong transcription | ||
| No. of Marker's Association Results | 0 (Positive: 0; Negative: 0; Trend: 0) | ||
| Source | LD-proxy | ||
SNP related association results
SNP related genes (count: 2)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| EBPL | emopamil binding protein-like | 13q12-q13 | Mapped by LD-proxy, rSNP target |
| KPNA3 | karyopherin alpha 3 | 13q14.3 | 1(0/1/0) |
SNPs in LD with rs56228130 (count: 0)
SNP related eQTL (count: 1)