12:21602815 G / A

dbSNP
rs71537702
Allele Frequency
0.09359
Allele Count
225 / 2404
UCSC
12-21602815-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
57475.0
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 21 204 6 9 0.0588 0.0882 0.1029
Azeri 24 200 7 10 0.07 0.1 0.12
Baloch 25 202 4 17 0.0396 0.1683 0.1238
Gilaki 14 198 3 8 0.0303 0.0808 0.07071
Kurd 12 200 4 4 0.04 0.04 0.06
Lur 19 200 5 9 0.05 0.09 0.095
Mazani 16 200 0 16 0.0 0.16 0.08
Persian 10 200 3 4 0.03 0.04 0.05
Persian Gulf Islander 16 200 3 10 0.03 0.1 0.08
Sistani 27 200 3 21 0.03 0.21 0.135
Turkmen 8 200 1 6 0.01 0.06 0.04
Zartoshti 33 200 2 29 0.02 0.29 0.165
Total 225 2404 41 143 0.03410981697171381 0.11896838602329451 0.09359
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) 2.361
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