SNP Report
| Name | rs12936181 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 17:45799113 - 45799113(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | T | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.130591 | ||
| Annotation | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000634876); intron_variant(ENST00000352855, ENST00000339069, ENST00000634540, ENST00000619154, ENST00000347197, ENST00000293493, ENST00000577353, ENST00000587305, ENST00000314537, ENST00000398285, ENST00000582766); NMD_transcript_variant(ENST00000347197); non_coding_transcript_variant(ENST00000587305, ENST00000582766) | ||
| SIFT Annotation | deleterious; tolerated | ||
| SIFT Variant Effect | deleterious(ENST00000430334); tolerated(ENST00000430334, ENST00000581448, ENST00000584420, ENST00000589780) | ||
| PolyPhen Annotation | benign; possibly_damaging | ||
| PolyPhen Variant Effect | benign(ENST00000430334, ENST00000581448, ENST00000584420, ENST00000589780); possibly_damaging(ENST00000430334, ENST00000584420) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription;Enhancers | ||
| 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.



