SNP Report
Name | rs1858232 dbSNP Ensembl | ||
---|---|---|---|
Location | 1:162334048 - 162334048(+) | ||
Variant Seq | G | ||
Ancestral Allele | A | ||
Ref Seq | A | ||
Minor Allele Frequence | 0.331869 | ||
Annotation | upstream_gene_variant; intron_variant; NMD_transcript_variant | ||
Variant Effect | upstream_gene_variant(ENST00000516453); intron_variant(ENST00000430120, ENST00000361897, ENST00000530878); NMD_transcript_variant(ENST00000430120) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000361897, ENST00000430120, ENST00000530878) | ||
PolyPhen Annotation | probably_damaging | ||
PolyPhen Variant Effect | probably_damaging(ENST00000361897, ENST00000430120, ENST00000530878) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Weak transcription;Enhancers;Strong 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.