SNP Report
Basic Info
| Name | rs62243073 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 3:20041783 - 20041783(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | C | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.288139 | ||
| Annotation | intron_variant; non_coding_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000426228, ENST00000263754); non_coding_transcript_variant(ENST00000426228) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000263754) | ||
| PolyPhen Annotation | probably_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000263754) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Enhancers;Active TSS;Bivalent Enhancer;Weak transcription;Flanking Active TSS;Bivalent/Poised TSS;Flanking Bivalent TSS/Enh;ZNF genes & repeats | ||
| No. of Marker's Association Results | 0 (Positive: 0; Negative: 0; Trend: 0) | ||
| Source | LD-proxy | ||
SNP related association results
SNP related genes (count: 3)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| EFHB | EF-hand domain family member B | 3p24.3 | rSNP target |
| KAT2B | K(lysine) acetyltransferase 2B | 3p24 | 1(0/0/1) |
| RAB5A | RAB5A, member RAS oncogene family | 3p24.3 | rSNP target |
SNPs in LD with rs62243073 (count: 0)
SNP related eQTL (count: 1)