SNP Report
Basic Info
| Name | rs7728378 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 5:76963525 - 76963525(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | C | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.453674 | ||
| Annotation | downstream_gene_variant; intron_variant; non_coding_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000512446, ENST00000506501); intron_variant(ENST00000274368, ENST00000503763, ENST00000514258); non_coding_transcript_variant(ENST00000503763, ENST00000514258) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000274368) | ||
| PolyPhen Annotation | probably_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000274368) | ||
| 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)  |
|---|---|---|---|
| CRHBP | corticotropin releasing hormone binding protein | 5q13.3 | 1(1/0/0) |
SNPs in LD with rs7728378 (count: 0)
SNP related eQTL (count: 1)