SNP Report
Basic Info
| Name | rs12373123 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 17:45846707 - 45846707(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | T | ||
| Ref Seq | T | ||
| 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(ENST00000579599, ENST00000579244, ENST00000634876); non_coding_transcript_variant(ENST00000579599, ENST00000579244, ENST00000634876) | ||
| SIFT Annotation | deleterious_-_low_confidence | ||
| SIFT Variant Effect | deleterious_-_low_confidence(ENST00000329196) | ||
| PolyPhen Annotation | probably_damaging | ||
| PolyPhen Variant Effect | probably_damaging(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 rs12373123 (count: 0)
SNP related eQTL (count: 1)