SNP Report
Basic Info
| Name | rs12373139 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 17:45846764 - 45846764(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.0860623 | ||
| Annotation | missense_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant | ||
| Variant Effect | missense_variant(ENST00000329196); upstream_gene_variant(ENST00000581125); intron_variant(ENST00000634876, ENST00000579599, ENST00000579244); non_coding_transcript_variant(ENST00000634876, ENST00000579599, ENST00000579244) | ||
| SIFT Annotation | tolerated_-_low_confidence | ||
| SIFT Variant Effect | tolerated_-_low_confidence(ENST00000329196) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000329196) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | 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: 2)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| SPPL2C | signal peptide peptidase like 2C | 17q21.31 | Mapped by Literature SNP, Mapped by LD-proxy, rSNP target |
| MAPT-AS1 | MAPT antisense RNA 1 | 17q21.31 | Mapped by Literature SNP, Mapped by LD-proxy, rSNP target |
SNPs in LD with rs12373139 (count: 0)
SNP related eQTL (count: 1)