SNP Report
Name | rs2466273 dbSNP Ensembl | ||
---|---|---|---|
Location | 8:13008495 - 13008495(+) | ||
Variant Seq | C | ||
Ancestral Allele | C | ||
Ref Seq | A | ||
Minor Allele Frequence | 0.130391 | ||
Annotation | downstream_gene_variant; upstream_gene_variant; intron_variant | ||
Variant Effect | downstream_gene_variant(ENST00000400069, ENST00000528335, ENST00000528753); upstream_gene_variant(ENST00000529978, ENST00000529706); intron_variant(ENST00000524591, ENST00000532376, ENST00000447063) | ||
SIFT Annotation | tolerated | ||
SIFT Variant Effect | tolerated(ENST00000524591) | ||
PolyPhen Annotation | probably_damaging | ||
PolyPhen Variant Effect | probably_damaging(ENST00000524591) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | TF binding region | ||
Chromatin State | Weak transcription;Strong transcription | ||
No. of Marker's Association Results | 1 (Positive: 0; Negative: 0; Trend: 1) | ||
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.