SNP Report
| Name | rs7524148 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 1:46413119 - 46413119(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Annotation | downstream_gene_variant; missense_variant; intron_variant; splice_region_variant; NMD_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000493735, ENST00000493636, ENST00000489366); missense_variant(ENST00000243167); intron_variant(ENST00000484697); splice_region_variant(ENST00000484697); NMD_transcript_variant(ENST00000484697) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000243167) | ||
| PolyPhen Annotation | probably_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000243167) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Weak transcription;Strong transcription;Enhancers;Bivalent Enhancer;Genic enhancers | ||
| No. of Marker's Association Results | 1 (Positive: 0; Negative: 1; Trend: 0) | ||
| Source | Literature | ||


