SNP Report
Name | rs12725553 dbSNP Ensembl | ||
---|---|---|---|
Location | 1:162198326 - 162198326(+) | ||
Variant Seq | A | ||
Ancestral Allele | G | ||
Ref Seq | G | ||
Minor Allele Frequence | 0.46266 | ||
Annotation | intron_variant; NMD_transcript_variant | ||
Variant Effect | intron_variant(ENST00000430120, ENST00000530878, ENST00000361897); NMD_transcript_variant(ENST00000430120) | ||
SIFT Annotation | tolerated | ||
SIFT Variant Effect | tolerated(ENST00000530878, ENST00000361897, ENST00000430120) | ||
PolyPhen Annotation | benign; possibly_damaging | ||
PolyPhen Variant Effect | benign(ENST00000530878); possibly_damaging(ENST00000361897, ENST00000430120) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Enhancers;Weak transcription;Flanking Active TSS | ||
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.