SNP Report
Name | rs4511180 dbSNP Ensembl | ||
---|---|---|---|
Location | 1:202180311 - 202180311(+) | ||
Variant Seq | G | ||
Ancestral Allele | G | ||
Ref Seq | A | ||
Minor Allele Frequence | 0.292931 | ||
Annotation | non_coding_transcript_exon_variant; intron_variant; non_coding_transcript_variant | ||
Variant Effect | non_coding_transcript_exon_variant(ENST00000482597); intron_variant(ENST00000490225); non_coding_transcript_variant(ENST00000490225, ENST00000482597) | ||
SIFT Annotation | deleterious_-_low_confidence; tolerated_-_low_confidence; deleterious; tolerated | ||
SIFT Variant Effect | deleterious_-_low_confidence(ENST00000435759, ENST00000309017, ENST00000480836, ENST00000486116, ENST00000496197); tolerated_-_low_confidence(ENST00000467283); deleterious(ENST00000462815, ENST00000629151); tolerated(ENST00000495688, ENST00000477554, ENST00000367279, ENST00000492451, ENST00000464870) | ||
PolyPhen Annotation | benign; possibly_damaging | ||
PolyPhen Variant Effect | benign(ENST00000495688, ENST00000467283, ENST00000309017, ENST00000477554, ENST00000486116, ENST00000367279, ENST00000492451, ENST00000464870); possibly_damaging(ENST00000462815, ENST00000435759, ENST00000480836, ENST00000496197, ENST00000629151) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Weak transcription;Enhancers | ||
No. of Marker's Association Results | 1 (Positive: 0; Negative: 0; Trend: 1) | ||
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.