12:21630146 A / G

dbSNP
rs917855
Allele Frequency
0.1435
Allele Count
345 / 2404
UCSC
12-21630146-A-G
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
20959.5
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 30 204 12 6 0.1176 0.0588 0.1471
Azeri 40 200 16 8 0.16 0.08 0.2
Baloch 43 202 12 19 0.1188 0.1881 0.2129
Gilaki 17 198 6 5 0.0606 0.0505 0.08586
Kurd 35 200 12 11 0.12 0.11 0.175
Lur 15 200 6 3 0.06 0.03 0.075
Mazani 36 200 14 8 0.14 0.08 0.18
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 53 200 16 21 0.16 0.21 0.265
Sistani 24 200 9 6 0.09 0.06 0.12
Turkmen 6 200 2 2 0.02 0.02 0.03
Zartoshti 38 200 15 8 0.15 0.08 0.19
Total 345 2404 124 97 0.10316139767054909 0.08069883527454243 0.1435
Annotations

This variant falls on 2 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) 1.903
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