SNP Report
Name | rs1124492 dbSNP Ensembl | ||
---|---|---|---|
Location | 11:113411553 - 113411553(+) | ||
Variant Seq | A | ||
Ancestral Allele | C | ||
Ref Seq | C | ||
Minor Allele Frequence | 0.29992 | ||
Annotation | downstream_gene_variant; non_coding_transcript_exon_variant; intron_variant; non_coding_transcript_variant | ||
Variant Effect | downstream_gene_variant(ENST00000539420, ENST00000535984, ENST00000540600); non_coding_transcript_exon_variant(ENST00000546284); intron_variant(ENST00000544518, ENST00000542968, ENST00000346454, ENST00000538967, ENST00000362072); non_coding_transcript_variant(ENST00000546284) | ||
SIFT Annotation | tolerated | ||
SIFT Variant Effect | tolerated(ENST00000542968, ENST00000346454, ENST00000538967, ENST00000362072, ENST00000544518) | ||
PolyPhen Annotation | benign | ||
PolyPhen Variant Effect | benign(ENST00000542968, ENST00000346454, ENST00000538967, ENST00000362072, ENST00000544518) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | lncRNA | ||
Chromatin State | Weak transcription | ||
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.