SNP Report
Name | rs2267717 dbSNP Ensembl | ||
---|---|---|---|
Location | 7:30677427 - 30677427(+) | ||
Variant Seq | A | ||
Ancestral Allele | G | ||
Ref Seq | G | ||
Minor Allele Frequence | 0.241613 | ||
Annotation | downstream_gene_variant; intron_variant; NMD_transcript_variant | ||
Variant Effect | downstream_gene_variant(ENST00000445981, ENST00000423776); intron_variant(ENST00000471646, ENST00000341843, ENST00000506074, ENST00000348438, ENST00000452278); NMD_transcript_variant(ENST00000452278) | ||
SIFT Annotation | tolerated_-_low_confidence; tolerated | ||
SIFT Variant Effect | tolerated_-_low_confidence(ENST00000506074); tolerated(ENST00000471646) | ||
PolyPhen Annotation | benign | ||
PolyPhen Variant Effect | benign(ENST00000506074, ENST00000471646) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Weak transcription | ||
No. of Marker's Association Results | 1 (Positive: 1; Negative: 0; Trend: 0) | ||
Source | Literature |