12:21602955 C / T

dbSNP
rs61926273
Allele Frequency
0.1044
Allele Count
251 / 2404
UCSC
12-21602955-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
16341.0
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 14 204 7 0 0.0686 0.0 0.06863
Azeri 6 200 3 0 0.03 0.0 0.03
Baloch 42 202 18 6 0.1782 0.0594 0.2079
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 19 200 8 3 0.08 0.03 0.095
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 37 200 16 5 0.16 0.05 0.185
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 48 200 19 10 0.19 0.1 0.24
Sistani 28 200 12 4 0.12 0.04 0.14
Turkmen 1 200 0 1 0.0 0.01 0.005
Zartoshti 50 200 21 8 0.21 0.08 0.25
Total 251 2404 107 37 0.08901830282861897 0.030782029950083195 0.1044
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) 0.249
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