SNP Report
| Name | rs171441 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 17:45815979 - 45815979(+) | ||
| Variant Seq | G | ||
| Ancestral Allele | G | ||
| Ref Seq | A | ||
| Minor Allele Frequence | 0.0814696 | ||
| Annotation | upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
| Variant Effect | upstream_gene_variant(ENST00000583888); intron_variant(ENST00000619154, ENST00000580955, ENST00000398285, ENST00000314537, ENST00000634540, ENST00000293493, ENST00000347197, ENST00000577353, ENST00000582766, ENST00000339069, ENST00000587305, ENST00000634876, ENST00000352855); NMD_transcript_variant(ENST00000580955, ENST00000347197); non_coding_transcript_variant(ENST00000582766, ENST00000587305, ENST00000634876) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000347197, ENST00000580955, ENST00000577353, ENST00000352855, ENST00000293493, ENST00000314537, ENST00000398285, ENST00000583888) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000347197, ENST00000580955, ENST00000577353, ENST00000352855, ENST00000293493, ENST00000314537, ENST00000398285, ENST00000583888) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | TF binding region | ||
| Chromatin State | Weak transcription;Enhancers;Bivalent Enhancer | ||
| 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.



