SNP Report
| Name | rs532967 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 12:117294534 - 117294534(+) | ||
| Variant Seq | G | ||
| Ancestral Allele | G | ||
| Ref Seq | A | ||
| Minor Allele Frequence | 0.158546 | ||
| Annotation | intron_variant | ||
| Variant Effect | intron_variant(ENST00000618760, ENST00000317775, ENST00000344089, ENST00000338101) | ||
| SIFT Annotation | tolerated_-_low_confidence | ||
| SIFT Variant Effect | tolerated_-_low_confidence(ENST00000317775, ENST00000618760, ENST00000344089, ENST00000338101) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000317775, ENST00000618760, ENST00000344089, ENST00000338101) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Enhancers;Bivalent Enhancer;Weak transcription | ||
| No. of Marker's Association Results | 1 (Positive: 0; Negative: 1; Trend: 0) | ||
| Source | Literature | ||
The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r2<=0.8.



