12:21615664 T / C

dbSNP
rs3782660
Allele Frequency
0.4572
Allele Count
1099 / 2404
UCSC
12-21615664-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
168373.0
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 91 204 23 45 0.2255 0.4412 0.4461
Azeri 103 200 29 45 0.29 0.45 0.515
Baloch 94 202 23 48 0.2277 0.4752 0.4653
Gilaki 71 198 19 33 0.1919 0.3333 0.3586
Kurd 93 200 23 47 0.23 0.47 0.465
Lur 92 200 33 26 0.33 0.26 0.46
Mazani 90 200 26 38 0.26 0.38 0.45
Persian 88 200 26 36 0.26 0.36 0.44
Persian Gulf Islander 102 200 28 46 0.28 0.46 0.51
Sistani 73 200 20 33 0.2 0.33 0.365
Turkmen 86 200 21 44 0.21 0.44 0.43
Zartoshti 116 200 39 38 0.39 0.38 0.58
Total 1099 2404 310 479 0.2579034941763727 0.3985024958402662 0.4572
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) 4.931
Ada Score 0.168969
RF Score 0.102
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