SNP Report
Name | rs2267715 dbSNP Ensembl | ||
---|---|---|---|
Location | 7:30676471 - 30676471(+) | ||
Variant Seq | A | ||
Ancestral Allele | G | ||
Ref Seq | G | ||
Minor Allele Frequence | 0.404553 | ||
Annotation | intron_variant; NMD_transcript_variant | ||
Variant Effect | intron_variant(ENST00000471646, ENST00000452278, ENST00000348438, ENST00000341843, ENST00000506074); NMD_transcript_variant(ENST00000452278) | ||
SIFT Annotation | tolerated_-_low_confidence; deleterious_-_low_confidence | ||
SIFT Variant Effect | tolerated_-_low_confidence(ENST00000506074); deleterious_-_low_confidence(ENST00000471646) | ||
PolyPhen Annotation | unknown; benign; possibly_damaging | ||
PolyPhen Variant Effect | unknown(ENST00000445981); benign(ENST00000471646); possibly_damaging(ENST00000506074) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Weak transcription | ||
No. of Marker's Association Results | 2 (Positive: 2; 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.