SNP Report
| Name | rs164148 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 1:162368695 - 162368695(+) | ||
| Variant Seq | G | ||
| Ancestral Allele | A | ||
| Ref Seq | A | ||
| Minor Allele Frequence | 0.278954 | ||
| Annotation | downstream_gene_variant; 3_prime_UTR_variant; intron_variant; NMD_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000430120, ENST00000464284, ENST00000367935, ENST00000454693, ENST00000530878); 3_prime_UTR_variant(ENST00000361897, ENST00000493151); intron_variant(ENST00000367932, ENST00000420220, ENST00000431696); NMD_transcript_variant(ENST00000367932) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000620601, ENST00000367935) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000620601, ENST00000367935) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Strong transcription;Weak transcription;Genic enhancers;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.



