SNP Report
Basic Info
| Name | rs129888 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 9:133663325 - 133663325(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.227636 | ||
| Annotation | downstream_gene_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000371868, ENST00000469828, ENST00000422262, ENST00000439388, ENST00000371872, ENST00000393056) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000371868, ENST00000371872, ENST00000439388) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000371868, ENST00000371872, ENST00000439388) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription;Genic enhancers;Strong transcription;Bivalent Enhancer | ||
| 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)  |
|---|---|---|---|
| DBH | dopamine beta-hydroxylase (dopamine beta-monooxygenase) | 9q34 | 4(0/4/0) |
| SARDH | sarcosine dehydrogenase | 9q33-q34 | Mapped by LD-proxy |
SNPs in LD with rs129888 (count: 0)
SNP related eQTL (count: 1)