SNP Report
| Name | rs324420 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 1:46405089 - 46405089(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | C | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.261581 | ||
| Annotation | missense_variant; non_coding_transcript_exon_variant; upstream_gene_variant; non_coding_transcript_variant | ||
| Variant Effect | missense_variant(ENST00000243167); non_coding_transcript_exon_variant(ENST00000493735, ENST00000468718); upstream_gene_variant(ENST00000484697, ENST00000493636, ENST00000489366); non_coding_transcript_variant(ENST00000493735, ENST00000468718) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000243167) | ||
| PolyPhen Annotation | probably_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000243167) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | TF binding region | ||
| Chromatin State | Weak transcription;Enhancers;Strong transcription;Genic enhancers | ||
| No. of Marker's Association Results | 5 (Positive: 1; Negative: 4; 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.



