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SNP Report
| Name | rs678 dbSNP Ensembl | ||
|---|---|---|---|
| Location | chr3:52786965 - 52786965(1) | ||
| Variant Alleles | A/T | ||
| Ancestral Allele | A | ||
| Minor Allele | T | ||
| Minor Allele Frequence | 0.286941 | ||
| Functional Annotation | downstream_gene_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant.
Polyphen Annotation: probably damaging(ENST00000273283, ENST00000428133, ENST00000537050); benign(ENST00000484844) SIFT Annotation: deleterious(ENST00000484844, ENST00000273283, ENST00000428133, ENST00000537050) |
||
| Consequence to Transcript | downstream_gene_variant(ENST00000478667, ENST00000487686, ENST00000494603); missense_variant(ENST00000484844, ENST00000273283, ENST00000428133, ENST00000537050); NMD_transcript_variant(ENST00000484844); non_coding_transcript_exon_variant(ENST00000628722); non_coding_transcript_variant(ENST00000628722); upstream_gene_variant(ENST00000405128, ENST00000482836, ENST00000494705) | ||
| No. of Studies | 0 (Positive: 0; Negative: 0; Trend: 0) | ||
| Source | LD-proxy | ||


