SNP Report
Name | rs518425 dbSNP Ensembl | ||
---|---|---|---|
Location | 15:78591471 - 78591471(+) | ||
Variant Seq | G | ||
Ancestral Allele | A | ||
Ref Seq | A | ||
Minor Allele Frequence | 0.454073 | ||
Annotation | downstream_gene_variant; upstream_gene_variant; intron_variant | ||
Variant Effect | downstream_gene_variant(ENST00000559002, ENST00000348639, ENST00000559658, ENST00000326828); upstream_gene_variant(ENST00000567141); intron_variant(ENST00000299565, ENST00000559576, ENST00000394802, ENST00000559554) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000299565) | ||
PolyPhen Annotation | probably_damaging | ||
PolyPhen Variant Effect | probably_damaging(ENST00000299565) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Weak transcription | ||
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.