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SNP Report
| Name | rs1053593 dbSNP Ensembl | ||
|---|---|---|---|
| Location | chr22:35264882 - 35264882(1) | ||
| Variant Alleles | G/C/T | ||
| Ancestral Allele | G | ||
| Minor Allele | T | ||
| Minor Allele Frequence | 0.452476 | ||
| Functional Annotation | 3_prime_UTR_variant; downstream_gene_variant; missense_variant; NMD_transcript_variant.
Polyphen Annotation: benign(ENST00000420166, ENST00000455359, ENST00000216106) SIFT Annotation: deleterious(ENST00000420166' target='_blank'>ENST00000420166, ENST00000455359' target='_blank'>ENST00000455359); deleterious - low confidence(ENST00000216106' target='_blank'>ENST00000216106); tolerated(ENST00000420166' target='_blank'>ENST00000420166, ENST00000455359' target='_blank'>ENST00000455359); tolerated - low confidence(ENST00000216106' target='_blank'>ENST00000216106) |
||
| Consequence to Transcript | 3_prime_UTR_variant(ENST00000418170); downstream_gene_variant(ENST00000464480, ENST00000498325); missense_variant(ENST00000420166, ENST00000455359, ENST00000216106, ENST00000420166, ENST00000455359, ENST00000216106); NMD_transcript_variant(ENST00000418170) | ||
| No. of Studies | 0 (Positive: 0; Negative: 0; Trend: 0) | ||
| Source | LD-proxy | ||


