SNP Report
Basic Info
| Name | rs4722999 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 7:30654159 - 30654159(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | C | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.407748 | ||
| Annotation | intron_variant; NMD_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000506074, ENST00000341843, ENST00000471646, ENST00000348438, ENST00000452278); NMD_transcript_variant(ENST00000452278) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000506074, ENST00000348438, ENST00000341843, ENST00000471646) | ||
| PolyPhen Annotation | possibly_damaging; probably_damaging | ||
| PolyPhen Variant Effect | possibly_damaging(ENST00000348438, ENST00000471646); probably_damaging(ENST00000506074, ENST00000341843) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription;Strong transcription;Genic enhancers | ||
| 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)  |
|---|---|---|---|
| CRHR2 | corticotropin releasing hormone receptor 2 | 7p14.3 | 2(2/0/0) |
SNPs in LD with rs4722999 (count: 0)
SNP related eQTL (count: 1)