SNP Report
Basic Info
| Name | rs6703040 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 1:192788302 - 192788302(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | A | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.397764 | ||
| Annotation | downstream_gene_variant | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000543215, ENST00000391995) | ||
| PolyPhen Annotation | probably_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000543215, ENST00000391995) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Enhancers;Active TSS;Flanking Active TSS | ||
| 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)  |
|---|---|---|---|
| RGS2 | regulator of G-protein signaling 2 | 1q31 | 7(2/5/0) |
SNPs in LD with rs6703040 (count: 0)
SNP related eQTL (count: 1)