12:21641583 C / T

dbSNP
rs2215731
Allele Frequency
0.1198
Allele Count
288 / 2404
UCSC
12-21641583-C-T
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
8781.32
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 16 204 8 0 0.0784 0.0 0.07843
Azeri 18 200 9 0 0.09 0.0 0.09
Baloch 30 202 15 0 0.1485 0.0 0.1485
Gilaki 12 198 6 0 0.0606 0.0 0.06061
Kurd 22 200 11 0 0.11 0.0 0.11
Lur 14 200 7 0 0.07 0.0 0.07
Mazani 22 200 11 0 0.11 0.0 0.11
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 22 200 11 0 0.11 0.0 0.11
Sistani 52 200 26 0 0.26 0.0 0.26
Turkmen 28 200 14 0 0.14 0.0 0.14
Zartoshti 44 200 22 0 0.22 0.0 0.22
Total 288 2404 144 0 0.11980033277870217 0.0 0.1198
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) 4.304
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