SNP Report
Basic Info
| Name | rs2424947 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 20:33084172 - 33084172(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | T | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.372604 | ||
| Annotation | intron_variant; NMD_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000375483, ENST00000445356); NMD_transcript_variant(ENST00000445356) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000375483) | ||
| PolyPhen Annotation | probably_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000375483) | ||
| rSNP? | No Link in rVarBase | ||
| Related Regulatory Elements | N.A. | ||
| Chromatin State | N.A. | ||
| 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)  |
|---|---|---|---|
| BPIFB4 | BPI fold containing family B member 4 | 20q11.21 | Mapped by Literature SNP, Mapped by LD-proxy |
SNPs in LD with rs2424947 (count: 0)
SNP related eQTL (count: 1)