SNP Report
Name | rs2254298 dbSNP Ensembl | ||
---|---|---|---|
Location | 3:8760542 - 8760542(+) | ||
Variant Seq | A | ||
Ancestral Allele | G | ||
Ref Seq | G | ||
Minor Allele Frequence | 0.207069 | ||
Annotation | intron_variant; non_coding_transcript_variant | ||
Variant Effect | intron_variant(ENST00000316793, ENST00000472766); non_coding_transcript_variant(ENST00000472766) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000316793) | ||
PolyPhen Annotation | probably_damaging | ||
PolyPhen Variant Effect | probably_damaging(ENST00000316793) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Weak transcription;Genic enhancers;Enhancers | ||
No. of Marker's Association Results | 2 (Positive: 0; Negative: 2; 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.