SNP Report
Basic Info
| Name | rs9596169 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 13:49681343 - 49681343(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | T | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.198482 | ||
| Annotation | intron_variant; non_coding_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000378268, ENST00000495963, ENST00000378284, ENST00000242827, ENST00000378272, ENST00000378270, ENST00000473576); non_coding_transcript_variant(ENST00000495963, ENST00000473576) | ||
| SIFT Annotation | tolerated_-_low_confidence | ||
| SIFT Variant Effect | tolerated_-_low_confidence(ENST00000378268) | ||
| PolyPhen Annotation | unknown | ||
| PolyPhen Variant Effect | unknown(ENST00000378268) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak 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: 1)
| 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 |
SNPs in LD with rs9596169 (count: 0)
SNP related eQTL (count: 1)