SNP Report
| Name | rs3213207 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 6:15627871 - 15627871(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | T | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.0591054 | ||
| Annotation | intron_variant; NMD_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000344537, LRG_588t2, ENST00000510395, ENST00000355917, ENST00000513680, ENST00000511762, LRG_588t1, ENST00000622898, ENST00000515875, ENST00000338950, ENST00000506844); NMD_transcript_variant(ENST00000510395, ENST00000513680, ENST00000515875, ENST00000506844) | ||
| SIFT Annotation | deleterious; tolerated | ||
| SIFT Variant Effect | deleterious(ENST00000344537, LRG_588t1, ENST00000622898, ENST00000355917, ENST00000338950, LRG_588t2); tolerated(ENST00000515875, ENST00000511762) | ||
| PolyPhen Annotation | benign; possibly_damaging | ||
| PolyPhen Variant Effect | benign(ENST00000344537, ENST00000515875, LRG_588t1, ENST00000355917, ENST00000338950, ENST00000511762, LRG_588t2); possibly_damaging(ENST00000622898) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription;Enhancers;Flanking Active TSS | ||
| 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.



