SNP Report
Basic Info
| Name | rs6947982 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 7:30619934 - 30619934(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | C | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.404553 | ||
| Annotation | upstream_gene_variant; intron_variant; non_coding_transcript_variant | ||
| Variant Effect | upstream_gene_variant(ENST00000470392, ENST00000444666); intron_variant(ENST00000389266, ENST00000484093, LRG_243t1, ENST00000478124); non_coding_transcript_variant(ENST00000484093, ENST00000478124) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000389266, LRG_243t1) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000389266, LRG_243t1) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | TF binding region | ||
| Chromatin State | Strong transcription;Weak 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)  |
|---|---|---|---|
| GARS | glycyl-tRNA synthetase | 7p15 | Mapped by LD-proxy, rSNP target |
SNPs in LD with rs6947982 (count: 0)
SNP related eQTL (count: 1)