SNP Report
Name | rs60646603 dbSNP Ensembl | ||
---|---|---|---|
Location | 8:27470188 - 27470188(+) | ||
Variant Seq | G | ||
Ancestral Allele | A | ||
Ref Seq | A | ||
Minor Allele Frequence | 0.00499201 | ||
Annotation | downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant | ||
Variant Effect | downstream_gene_variant(ENST00000520650, ENST00000520208); upstream_gene_variant(ENST00000522008, ENST00000520600); intron_variant(ENST00000518712, ENST00000523695, ENST00000521921, ENST00000407991, ENST00000524096, ENST00000240132, ENST00000520933); NMD_transcript_variant(ENST00000523695) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000523695, ENST00000520933, ENST00000407991, ENST00000524096) | ||
PolyPhen Annotation | probably_damaging | ||
PolyPhen Variant Effect | probably_damaging(ENST00000523695, ENST00000520933, ENST00000407991, ENST00000524096) | ||
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.