12:21602959 TTTT / _

dbSNP
rs57680030
Allele Frequency
0.05324
Allele Count
128 / 2404
UCSC
12-21602959-TTTT-_
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
13878.0
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 2 204 1 0 0.0098 0.0 0.009804
Azeri 4 200 2 0 0.02 0.0 0.02
Baloch 13 202 5 3 0.0495 0.0297 0.06436
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 8 200 4 0 0.04 0.0 0.04
Lur 0 200 0 0 0.0 0.0 0
Mazani 22 200 9 4 0.09 0.04 0.11
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 22 200 8 6 0.08 0.06 0.11
Sistani 18 200 7 4 0.07 0.04 0.09
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 35 200 14 7 0.14 0.07 0.175
Total 128 2404 52 24 0.04326123128119801 0.019966722129783693 0.05324
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) 1.513
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