SNP Report
Name | rs2284220 dbSNP Ensembl | ||
---|---|---|---|
Location | 7:30678487 - 30678487(+) | ||
Variant Seq | A | ||
Ancestral Allele | A | ||
Ref Seq | G | ||
Minor Allele Frequence | 0.213458 | ||
Annotation | downstream_gene_variant; intron_variant; NMD_transcript_variant | ||
Variant Effect | downstream_gene_variant(ENST00000423776, ENST00000445981); intron_variant(ENST00000348438, ENST00000471646, ENST00000341843, ENST00000452278, ENST00000506074); NMD_transcript_variant(ENST00000452278) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000506074, ENST00000471646, ENST00000341843, ENST00000348438) | ||
PolyPhen Annotation | probably_damaging; possibly_damaging | ||
PolyPhen Variant Effect | probably_damaging(ENST00000348438); possibly_damaging(ENST00000506074, ENST00000471646, ENST00000341843) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Weak transcription;Bivalent Enhancer;Enhancers;ZNF genes & repeats | ||
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.