SNP Report
Name | rs73679204 dbSNP Ensembl | ||
---|---|---|---|
Location | 8:27476104 - 27476104(+) | ||
Variant Seq | C | ||
Ancestral Allele | T | ||
Ref Seq | T | ||
Minor Allele Frequence | 0.0107827 | ||
Annotation | upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
Variant Effect | upstream_gene_variant(ENST00000521921); intron_variant(ENST00000520650, ENST00000523695, ENST00000240132, ENST00000520933, ENST00000407991, ENST00000518712, ENST00000520208, ENST00000524096); NMD_transcript_variant(ENST00000523695); non_coding_transcript_variant(ENST00000520650) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000523695, ENST00000520933, ENST00000240132, ENST00000407991) | ||
PolyPhen Annotation | probably_damaging | ||
PolyPhen Variant Effect | probably_damaging(ENST00000523695, ENST00000520933, ENST00000240132, ENST00000407991) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Weak transcription;Enhancers | ||
No. of Marker's Association Results | 1 (Positive: 1; Negative: 0; 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.