12:21609222 G / T

dbSNP
rs4388943
Allele Frequency
0.386
Allele Count
928 / 2404
UCSC
12-21609222-G-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
155314.0
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 66 204 17 32 0.1667 0.3137 0.3235
Azeri 90 200 31 28 0.31 0.28 0.45
Baloch 96 202 22 52 0.2178 0.5149 0.4752
Gilaki 84 198 20 44 0.202 0.4444 0.4242
Kurd 70 200 18 34 0.18 0.34 0.35
Lur 61 200 24 13 0.24 0.13 0.305
Mazani 96 200 26 44 0.26 0.44 0.48
Persian 34 200 13 8 0.13 0.08 0.17
Persian Gulf Islander 100 200 30 40 0.3 0.4 0.5
Sistani 71 200 18 35 0.18 0.35 0.355
Turkmen 45 200 16 13 0.16 0.13 0.225
Zartoshti 115 200 35 45 0.35 0.45 0.575
Total 928 2404 270 388 0.22462562396006655 0.3227953410981697 0.386
Annotations

This variant falls on 7 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) 0.195
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