SNP Report
Name | rs164148 dbSNP Ensembl | ||
---|---|---|---|
Location | 1:162368695 - 162368695(+) | ||
Variant Seq | G | ||
Ancestral Allele | A | ||
Ref Seq | A | ||
Minor Allele Frequence | 0.278954 | ||
Annotation | downstream_gene_variant; 3_prime_UTR_variant; intron_variant; NMD_transcript_variant | ||
Variant Effect | downstream_gene_variant(ENST00000430120, ENST00000464284, ENST00000367935, ENST00000454693, ENST00000530878); 3_prime_UTR_variant(ENST00000361897, ENST00000493151); intron_variant(ENST00000367932, ENST00000420220, ENST00000431696); NMD_transcript_variant(ENST00000367932) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000620601, ENST00000367935) | ||
PolyPhen Annotation | benign | ||
PolyPhen Variant Effect | benign(ENST00000620601, ENST00000367935) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Strong transcription;Weak transcription;Genic enhancers;Enhancers | ||
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.