SNP Report
Name | rs584007 dbSNP Ensembl | ||
---|---|---|---|
Location | 19:44913221 - 44913221(+) | ||
Variant Seq | G | ||
Ref Seq | A | ||
Minor Allele Frequence | 0.402955 | ||
Annotation | downstream_gene_variant; non_coding_transcript_exon_variant; upstream_gene_variant; non_coding_transcript_variant | ||
Variant Effect | downstream_gene_variant(ENST00000446996, ENST00000425718, ENST00000434152, ENST00000252486); non_coding_transcript_exon_variant(ENST00000623895); upstream_gene_variant(ENST00000592535, ENST00000586638, ENST00000589781, ENST00000588750, ENST00000590334, ENST00000588802, ENST00000592885, ENST00000592176, ENST00000589078); non_coding_transcript_variant(ENST00000623895) | ||
SIFT Annotation | deleterious_-_low_confidence; deleterious | ||
SIFT Variant Effect | deleterious_-_low_confidence(ENST00000592885, ENST00000586638); deleterious(ENST00000588750, ENST00000592535, ENST00000588802) | ||
PolyPhen Annotation | unknown; benign; possibly_damaging | ||
PolyPhen Variant Effect | unknown(ENST00000586638); benign(ENST00000588750, ENST00000592535, ENST00000588802); possibly_damaging(ENST00000592885) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | TF binding region;Chromatin interactive region | ||
Chromatin State | Enhancers;Weak transcription;Flanking Active TSS;Bivalent Enhancer | ||
No. of Marker's Association Results | 2 (Positive: 0; Negative: 2; 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.