SNP Report
Name | rs4430311 dbSNP Ensembl | ||
---|---|---|---|
Location | 1:243852691 - 243852691(+) | ||
Variant Seq | T | ||
Ancestral Allele | T | ||
Ref Seq | C | ||
Minor Allele Frequence | 0.495407 | ||
Annotation | upstream_gene_variant | ||
Variant Effect | upstream_gene_variant(ENST00000366539, ENST00000552631) | ||
SIFT Annotation | tolerated | ||
SIFT Variant Effect | tolerated(ENST00000263826, ENST00000366540, ENST00000336199, ENST00000552631, ENST00000366539) | ||
PolyPhen Annotation | benign | ||
PolyPhen Variant Effect | benign(ENST00000263826, ENST00000366540, ENST00000336199, ENST00000552631, ENST00000366539) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Weak transcription;Enhancers | ||
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.