SNP Report
Basic Info
| Name | rs62056801 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 17:45902138 - 45902138(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.0860623 | ||
| Annotation | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000624111); intron_variant(ENST00000344290, ENST00000446361, ENST00000340799, ENST00000535772, ENST00000351559, ENST00000571311, ENST00000334239, ENST00000570299, ENST00000262410); 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 | Chromatin interactive region | ||
| Chromatin State | Enhancers;Weak transcription | ||
| No. of Marker's Association Results | 0 (Positive: 0; Negative: 0; Trend: 0) | ||
| Source | LD-proxy | ||
SNP related association results
SNP related genes (count: 4)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| MAPT-IT1 | MAPT intronic transcript 1 | 17q21.31 | Mapped by LD-proxy |
| MAPT-AS1 | MAPT antisense RNA 1 | 17q21.31 | Mapped by Literature SNP, Mapped by LD-proxy, rSNP target |
| MAPT | microtubule associated protein tau | 17q21 | Mapped by LD-proxy, rSNP target |
| KANSL1 | KAT8 regulatory NSL complex subunit 1 | 17q21.31 | rSNP target |
SNPs in LD with rs62056801 (count: 0)
SNP related eQTL (count: 1)