12:21594329 G / T

dbSNP
rs6487224
Allele Frequency
0.1443
Allele Count
347 / 2404
UCSC
12-21594329-G-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
14344.3
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 12 204 6 0 0.0588 0.0 0.05882
Azeri 27 200 12 3 0.12 0.03 0.135
Baloch 33 202 14 5 0.1386 0.0495 0.1634
Gilaki 23 198 10 3 0.101 0.0303 0.1162
Kurd 22 200 9 4 0.09 0.04 0.11
Lur 17 200 8 1 0.08 0.01 0.085
Mazani 50 200 23 4 0.23 0.04 0.25
Persian 11 200 5 1 0.05 0.01 0.055
Persian Gulf Islander 46 200 19 8 0.19 0.08 0.23
Sistani 32 200 15 2 0.15 0.02 0.16
Turkmen 14 200 7 0 0.07 0.0 0.07
Zartoshti 60 200 26 8 0.26 0.08 0.3
Total 347 2404 154 39 0.1281198003327787 0.0324459234608985 0.1443
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) 0.385
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