SNP Report
Name | rs1799913 dbSNP Ensembl | ||
---|---|---|---|
Location | 11:18025708 - 18025708(+) | ||
Variant Seq | A,T | ||
Ancestral Allele | T | ||
Ref Seq | G | ||
Minor Allele Frequence | 0.321086 | ||
Annotation | downstream_gene_variant; upstream_gene_variant; intron_variant; splice_region_variant; NMD_transcript_variant | ||
Variant Effect | downstream_gene_variant(ENST00000528338); upstream_gene_variant(ENST00000525523, ENST00000525406); intron_variant(ENST00000417164, ENST00000250018); splice_region_variant(ENST00000417164, ENST00000250018); NMD_transcript_variant(ENST00000417164) | ||
SIFT Annotation | tolerated | ||
SIFT Variant Effect | tolerated(ENST00000265965, ENST00000525422, ENST00000528200) | ||
PolyPhen Annotation | unknown; benign | ||
PolyPhen Variant Effect | unknown(ENST00000524716); benign(ENST00000265965, ENST00000525422, ENST00000528200) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
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.