SNP Report
Name | rs2284218 dbSNP Ensembl | ||
---|---|---|---|
Location | 7:30674717 - 30674717(+) | ||
Variant Seq | T | ||
Ancestral Allele | T | ||
Ref Seq | C | ||
Minor Allele Frequence | 0.395767 | ||
Annotation | intron_variant; NMD_transcript_variant | ||
Variant Effect | intron_variant(ENST00000506074, ENST00000341843, ENST00000452278, ENST00000348438, ENST00000471646); NMD_transcript_variant(ENST00000452278) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000506074, ENST00000471646, ENST00000341843, ENST00000348438) | ||
PolyPhen Annotation | possibly_damaging; probably_damaging | ||
PolyPhen Variant Effect | possibly_damaging(ENST00000348438); probably_damaging(ENST00000506074, ENST00000471646, ENST00000341843) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Weak transcription;Enhancers | ||
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.