SNP Report
Basic Info
| Name | rs6503893 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 17:59072334 - 59072334(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | A | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.387181 | ||
| Annotation | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000580973); intron_variant(ENST00000581468, ENST00000582852, ENST00000262294, ENST00000393065, ENST00000393066, ENST00000577554); NMD_transcript_variant(ENST00000577554); non_coding_transcript_variant(ENST00000582852) | ||
| SIFT Annotation | deleterious; tolerated | ||
| SIFT Variant Effect | deleterious(ENST00000262294, ENST00000393066, ENST00000393065); tolerated(ENST00000581468) | ||
| PolyPhen Annotation | probably_damaging; possibly_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000581468); possibly_damaging(ENST00000262294, ENST00000393066, ENST00000393065) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| 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: 3)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| TRIM37 | tripartite motif containing 37 | 17q22 | Mapped by Literature SNP, Mapped by LD-proxy, rSNP target |
| RNU6-450P | RNA, U6 small nuclear 450, pseudogene | 17q23.1 | rSNP target |
| VMP1 | vacuole membrane protein 1 | 17q23.1 | rSNP target |
SNPs in LD with rs6503893 (count: 0)
SNP related eQTL (count: 1)