SNP Report
Name | rs258747 dbSNP Ensembl | ||
---|---|---|---|
Location | 5:143277248 - 143277248(+) | ||
Variant Seq | G | ||
Ancestral Allele | G | ||
Ref Seq | A | ||
Minor Allele Frequence | 0.402756 | ||
Annotation | downstream_gene_variant | ||
Variant Effect | downstream_gene_variant(ENST00000231509, ENST00000415690, ENST00000343796, ENST00000394464, ENST00000424646, ENST00000503201, ENST00000504572, ENST00000394466) | ||
SIFT Annotation | tolerated | ||
SIFT Variant Effect | tolerated(ENST00000378004, ENST00000418236, ENST00000443674, ENST00000274498) | ||
PolyPhen Annotation | benign; possibly_damaging | ||
PolyPhen Variant Effect | benign(ENST00000378004, ENST00000418236); possibly_damaging(ENST00000443674, ENST00000274498) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Weak transcription;Strong transcription;Enhancers | ||
No. of Marker's Association Results | 1 (Positive: 1; Negative: 0; 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.