SNP Report
Name | rs12936181 dbSNP Ensembl | ||
---|---|---|---|
Location | 17:45799113 - 45799113(+) | ||
Variant Seq | C | ||
Ancestral Allele | T | ||
Ref Seq | T | ||
Minor Allele Frequence | 0.130591 | ||
Annotation | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
Variant Effect | downstream_gene_variant(ENST00000634876); intron_variant(ENST00000352855, ENST00000339069, ENST00000634540, ENST00000619154, ENST00000347197, ENST00000293493, ENST00000577353, ENST00000587305, ENST00000314537, ENST00000398285, ENST00000582766); NMD_transcript_variant(ENST00000347197); non_coding_transcript_variant(ENST00000587305, ENST00000582766) | ||
SIFT Annotation | deleterious; tolerated | ||
SIFT Variant Effect | deleterious(ENST00000430334); tolerated(ENST00000430334, ENST00000581448, ENST00000584420, ENST00000589780) | ||
PolyPhen Annotation | benign; possibly_damaging | ||
PolyPhen Variant Effect | benign(ENST00000430334, ENST00000581448, ENST00000584420, ENST00000589780); possibly_damaging(ENST00000430334, ENST00000584420) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Weak transcription;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.