SNP Report
Name | rs17537141 dbSNP Ensembl | ||
---|---|---|---|
Location | 4:46300407 - 46300407(+) | ||
Variant Seq | C | ||
Ancestral Allele | T | ||
Ref Seq | T | ||
Minor Allele Frequence | 0.0591054 | ||
Annotation | downstream_gene_variant; intron_variant; NMD_transcript_variant | ||
Variant Effect | downstream_gene_variant(ENST00000514236); intron_variant(ENST00000630416, ENST00000381620, ENST00000510233, ENST00000510861, ENST00000514090, ENST00000507069, ENST00000540012, ENST00000513005, ENST00000515082, ENST00000356504); NMD_transcript_variant(ENST00000630416, ENST00000510233, ENST00000513005) | ||
SIFT Annotation | tolerated | ||
SIFT Variant Effect | tolerated(ENST00000381620, ENST00000510861, ENST00000540012, ENST00000356504, ENST00000514090, ENST00000507069) | ||
PolyPhen Annotation | unknown; benign | ||
PolyPhen Variant Effect | unknown(ENST00000540012, ENST00000507069); benign(ENST00000381620, ENST00000510861, ENST00000356504, ENST00000514090) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
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.