| Allele Count: | 7 |
|---|---|
| Allele Number: | 3366 |
| Allele Frequency: | 2.0796e-3 |
| Number of Homozygotes: | 0 |
| Dataset | Population | Population abbr | Allele Frequency |
|---|---|---|---|
| 1KGP3 | East Asian | EAS | - |
| South Asian | SAS | - | |
| African | AFR | - | |
| Americas | AMR | - | |
| European ancestry | EUR | - | |
| total | - | ||
| gnomAD v3 Genomes | East Asian | EAS | 0.0 |
| South Asian | SAS | 0.0 | |
| Afican | AFR | 0.0 | |
| Latino | AMR | 0.0 | |
| Amish | AMI | 0.0 | |
| European(Finnish) | FIN | 0.0 | |
| European(non-Finnish) | NFE | 0.0 | |
| Ashkenazi Jewish | ASJ | 0.0 | |
| other | OTH | 0.0 | |
| total | 0.0 | ||
| Region | Gene ID | Gene Detail | Exonic function | Consequence | |
|---|---|---|---|---|---|
| Ensembl | exonic | TSPY1 | - | nonsynonymous SNV | TSPY1:ENST00000423647.6:exon1:c.G257A:p.R86Q,TSPY1:ENST00000451548.5:exon1:c.G257A:p.R86Q |
| RefSeq | exonic | TSPY1 | - | nonsynonymous SNV | TSPY1:NM_001197242:exon1:c.G257A:p.R86Q,TSPY1:NM_003308:exon1:c.G257A:p.R86Q |
| Method | Score | Rank Score | predicted consequence |
|---|---|---|---|
| SIFT | 0.413 | 0.100 | T |
| PolyPhen2_HDIV | 0.982 | 0.581 | D |
| PolyPhen2_HVAR | 0.543 | 0.471 | P |
| FATHMM | 1.55 | 0.299 | T |
| CADD | 1.059 | 0.196 | 10.99 |
| ClinVar Significance | ClinVar Disease Name | ClinVar Allele ID | Tag-value |
|---|---|---|---|
| - | - | - | - |
Loss of Function (LoF) variants are indentified by package LOFTEE developed recently by gnomAD group to assess stop-gained, splice site disrupting and frameshift variants as “low-confidence” (LC) or “high-confidence” (HC) LoF variants.
| LoF | LoF_filter | LoF_flags | LoF_info |
|---|---|---|---|
| - | - | - | - |
| Belong to Haplotype | Drug | Guideine | URL | CPIC_Level | PharmGKB_Level _of_Evidence | PGx_on_FDA _Label | CPIC_Publications_PMID |
|---|---|---|---|---|---|---|---|
| - | - | - | - | - | - | - | - |
