SNP Report
Name | rs2853550 dbSNP Ensembl | ||
---|---|---|---|
Location | 2:112829544 - 112829544(+) | ||
Variant Seq | G | ||
Ancestral Allele | G | ||
Ref Seq | A | ||
Minor Allele Frequence | 0.202476 | ||
Annotation | downstream_gene_variant | ||
Variant Effect | downstream_gene_variant(ENST00000418817, ENST00000491056, ENST00000416750, ENST00000263341, ENST00000487639, ENST00000432018, ENST00000496280) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000263341) | ||
PolyPhen Annotation | possibly_damaging | ||
PolyPhen Variant Effect | possibly_damaging(ENST00000263341) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Weak transcription;Strong 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.