SNP Report
Name | rs2300182 dbSNP Ensembl | ||
---|---|---|---|
Location | 11:34446301 - 34446301(+) | ||
Variant Seq | A | ||
Ancestral Allele | T | ||
Ref Seq | T | ||
Minor Allele Frequence | 0.134585 | ||
Annotation | intron_variant | ||
Variant Effect | intron_variant(ENST00000241052) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000241052) | ||
PolyPhen Annotation | possibly_damaging | ||
PolyPhen Variant Effect | possibly_damaging(ENST00000241052) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Weak transcription;Enhancers;Genic enhancers;Transcr. at gene 5' nd 3';Flanking Active TSS;Strong 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.