SNP Report
Basic Info
| Name | rs9944484 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 17:45913296 - 45913296(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.0892572 | ||
| Annotation | upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
| Variant Effect | upstream_gene_variant(ENST00000574252); intron_variant(ENST00000535772, ENST00000334239, ENST00000262410, ENST00000571311, ENST00000351559, ENST00000570299, ENST00000446361, ENST00000340799, ENST00000344290); NMD_transcript_variant(ENST00000571311); non_coding_transcript_variant(ENST00000570299) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000329196) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000329196) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | TF binding region;lncRNA | ||
| Chromatin State | Strong transcription;Enhancers;Weak transcription;ZNF genes & repeats | ||
| No. of Marker's Association Results | 0 (Positive: 0; Negative: 0; Trend: 0) | ||
| Source | LD-proxy | ||
SNP related association results
SNP related genes (count: 1)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| MAPT | microtubule associated protein tau | 17q21 | Mapped by LD-proxy, rSNP target |
SNPs in LD with rs9944484 (count: 0)
SNP related eQTL (count: 1)