12:21603801 T / C

dbSNP
rs7134243
Allele Frequency
0.02621
Allele Count
63 / 2404
UCSC
12-21603801-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
1529.05
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 4 204 2 0 0.0196 0.0 0.01961
Azeri 4 200 2 0 0.02 0.0 0.02
Baloch 4 202 2 0 0.0198 0.0 0.0198
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 8 200 4 0 0.04 0.0 0.04
Lur 4 200 2 0 0.02 0.0 0.02
Mazani 14 200 7 0 0.07 0.0 0.07
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 6 200 3 0 0.03 0.0 0.03
Sistani 6 200 3 0 0.03 0.0 0.03
Turkmen 1 200 0 1 0.0 0.01 0.005
Zartoshti 6 200 3 0 0.03 0.0 0.03
Total 63 2404 31 1 0.025790349417637273 0.0008319467554076539 0.02621
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) 5.446
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