SNP Report
Basic Info
| Name | rs11178986 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 12:71919078 - 71919078(+) | ||
| Variant Seq | G | ||
| Ancestral Allele | A | ||
| Ref Seq | A | ||
| Minor Allele Frequence | 0.122804 | ||
| Annotation | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000548679, ENST00000483828); intron_variant(ENST00000546450, ENST00000485960, ENST00000550746, ENST00000319106, ENST00000462788); NMD_transcript_variant(ENST00000462788); non_coding_transcript_variant(ENST00000546450) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000550746, ENST00000485960, ENST00000319106) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000550746, ENST00000485960, ENST00000319106) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription;Strong 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: 1)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| TBC1D15 | TBC1 domain family member 15 | 12q15 | Mapped by LD-proxy, rSNP target |
SNPs in LD with rs11178986 (count: 0)
SNP related eQTL (count: 1)