12:21605157 A / C

dbSNP
rs3759229
Allele Frequency
0.3908
Allele Count
939 / 2403
UCSC
12-21605157-A-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
205533.0
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 79 204 23 33 0.2255 0.3235 0.3873
Azeri 85 200 28 29 0.28 0.29 0.425
Baloch 90 202 21 48 0.2079 0.4752 0.4455
Gilaki 75 197 20 35 0.203 0.3553 0.3807
Kurd 87 200 22 43 0.22 0.43 0.435
Lur 83 200 26 31 0.26 0.31 0.415
Mazani 91 200 25 41 0.25 0.41 0.455
Persian 48 200 14 20 0.14 0.2 0.24
Persian Gulf Islander 98 200 27 44 0.27 0.44 0.49
Sistani 74 200 21 32 0.21 0.32 0.37
Turkmen 24 200 7 10 0.07 0.1 0.12
Zartoshti 105 200 36 33 0.36 0.33 0.525
Total 939 2403 270 399 0.2247191011235955 0.33208489388264667 0.3908
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) 4.911
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