12:21643039 T / C

dbSNP
rs71581965
Allele Frequency
0.04576
Allele Count
110 / 2404
UCSC
12-21643039-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
13846.7
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 14 204 2 10 0.0196 0.098 0.06863
Azeri 8 200 2 4 0.02 0.04 0.04
Baloch 5 202 1 3 0.0099 0.0297 0.02475
Gilaki 5 198 1 3 0.0101 0.0303 0.02525
Kurd 23 200 4 15 0.04 0.15 0.115
Lur 6 200 1 4 0.01 0.04 0.03
Mazani 12 200 2 8 0.02 0.08 0.06
Persian 3 200 1 1 0.01 0.01 0.015
Persian Gulf Islander 5 200 1 3 0.01 0.03 0.025
Sistani 3 200 0 3 0.0 0.03 0.015
Turkmen 3 200 1 1 0.01 0.01 0.015
Zartoshti 23 200 7 9 0.07 0.09 0.115
Total 110 2404 23 64 0.01913477537437604 0.05324459234608985 0.04576
Annotations

This variant falls on 4 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) 1.884
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