12:21604617 _ / TTCTCA

dbSNP
rs71539403
Allele Frequency
0.03328
Allele Count
80 / 2404
UCSC
12-21604617-_-TTCTCA
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
3608.83
Filter Status
PASS
 Note: These are site-level quality metrics: they may be unpredictable for multi-allelic sites.
Population Frequencies
Population Allele Count Allele Number Number of Homozygotes Number of Heterozygotes Homozygous Genotype Freq. Heterozygous Genotype Freq. Allele Frequency
Arab 6 204 3 0 0.0294 0.0 0.02941
Azeri 4 200 2 0 0.02 0.0 0.02
Baloch 6 202 3 0 0.0297 0.0 0.0297
Gilaki 6 198 3 0 0.0303 0.0 0.0303
Kurd 10 200 5 0 0.05 0.0 0.05
Lur 0 200 0 0 0.0 0.0 0
Mazani 4 200 2 0 0.02 0.0 0.02
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 12 200 6 0 0.06 0.0 0.06
Sistani 16 200 8 0 0.08 0.0 0.08
Turkmen 4 200 2 0 0.02 0.0 0.02
Zartoshti 6 200 3 0 0.03 0.0 0.03
Total 80 2404 40 0 0.033277870216306155 0.0 0.03328
Annotations

This variant falls on 6 transcripts in 1 genes:

Note: This list may not include additional transcripts in the same gene that the variant does not overlap.

Additional Annotations
Metric Prediction
SIFT Pred (C) ?
Polyphen2 HVAR Pred (C) ?
MutationTaster Pred (C) ?
MutationAssessor Pred (C) ?
FATHMM Pred (C) ?
FATHMM MKL Coding Pred (C) ?
N of 6 Predicted Damaging ?
N of 6 Predicted Tolerated ?
MetaSVM Pred ?
MetaLR Pred ?
GERP++ RS ?
CADD Score (Phred Scale) 7.645
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score ?

Quality Metrics

Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above