SNP Report
Basic Info
| Name | rs57178647 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 17:66473971 - 66473971(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.168331 | ||
| Annotation | intron_variant; NMD_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000413366, ENST00000284384, ENST00000578063); NMD_transcript_variant(ENST00000284384, ENST00000578063) | ||
| SIFT Annotation | tolerated_-_low_confidence; tolerated | ||
| SIFT Variant Effect | tolerated_-_low_confidence(ENST00000284384); tolerated(ENST00000578063, ENST00000413366) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000578063, ENST00000413366, ENST00000284384) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Weak transcription;Enhancers;Genic 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)  |
|---|---|---|---|
| PRKCA | protein kinase C, alpha | 17q24.2 | 10(9/0/1) |
SNPs in LD with rs57178647 (count: 0)
SNP related eQTL (count: 1)