SNP Report
Name | rs2819322 dbSNP Ensembl | ||
---|---|---|---|
Location | 1:162311238 - 162311238(+) | ||
Variant Seq | C | ||
Ancestral Allele | T | ||
Ref Seq | T | ||
Minor Allele Frequence | 0.425719 | ||
Annotation | intron_variant; NMD_transcript_variant | ||
Variant Effect | intron_variant(ENST00000361897, ENST00000430120, ENST00000530878); NMD_transcript_variant(ENST00000430120) | ||
SIFT Annotation | deleterious; tolerated | ||
SIFT Variant Effect | deleterious(ENST00000530878, ENST00000361897); tolerated(ENST00000430120) | ||
PolyPhen Annotation | benign | ||
PolyPhen Variant Effect | benign(ENST00000430120, ENST00000530878, ENST00000361897) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Weak transcription;ZNF genes & repeats;Enhancers | ||
No. of Marker's Association Results | 1 (Positive: 0; Negative: 1; 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.