12:21595633 T / C

dbSNP
rs11608682
Allele Frequency
0.08153
Allele Count
196 / 2404
UCSC
12-21595633-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
5636.65
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 7 204 3 1 0.0294 0.0098 0.03431
Azeri 11 200 5 1 0.05 0.01 0.055
Baloch 13 202 5 3 0.0495 0.0297 0.06436
Gilaki 17 198 8 1 0.0808 0.0101 0.08586
Kurd 12 200 6 0 0.06 0.0 0.06
Lur 9 200 4 1 0.04 0.01 0.045
Mazani 26 200 12 2 0.12 0.02 0.13
Persian 21 200 10 1 0.1 0.01 0.105
Persian Gulf Islander 24 200 11 2 0.11 0.02 0.12
Sistani 22 200 9 4 0.09 0.04 0.11
Turkmen 12 200 6 0 0.06 0.0 0.06
Zartoshti 22 200 11 0 0.11 0.0 0.11
Total 196 2404 90 16 0.07487520798668885 0.013311148086522463 0.08153
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) 1.6
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