SNP Report
Name | rs41423247 dbSNP Ensembl | ||
---|---|---|---|
Location | 5:143399010 - 143399010(+) | ||
Variant Seq | C | ||
Ancestral Allele | G | ||
Ref Seq | G | ||
Minor Allele Frequence | 0.254593 | ||
Annotation | downstream_gene_variant; intron_variant | ||
Variant Effect | downstream_gene_variant(ENST00000502892, ENST00000502500, ENST00000510170, ENST00000508760, ENST00000514699); intron_variant(ENST00000343796, ENST00000504572, ENST00000503201, ENST00000394466, ENST00000231509, ENST00000415690, ENST00000394464, ENST00000424646) | ||
SIFT Annotation | tolerated_-_low_confidence; tolerated | ||
SIFT Variant Effect | tolerated_-_low_confidence(ENST00000504572, ENST00000394464, ENST00000424646, ENST00000394466, ENST00000231509, ENST00000503201, ENST00000415690, ENST00000343796); tolerated(ENST00000510170, ENST00000502892, ENST00000502500, ENST00000514699, ENST00000508760) | ||
PolyPhen Annotation | benign | ||
PolyPhen Variant Effect | benign(ENST00000504572, ENST00000394464, ENST00000424646, ENST00000510170, ENST00000502892, ENST00000502500, ENST00000514699, ENST00000394466, ENST00000231509, ENST00000503201, ENST00000415690, ENST00000508760, ENST00000343796) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Enhancers;Active TSS;Flanking Active TSS;Weak transcription;Transcr. at gene 5' nd 3';Genic enhancers;Bivalent/Poised TSS;Strong transcription | ||
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.