12:21600838 A / G

dbSNP
rs11046057
Allele Frequency
0.173
Allele Count
416 / 2404
UCSC
12-21600838-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
29796.9
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 27 204 12 3 0.1176 0.0294 0.1324
Azeri 26 200 12 2 0.12 0.02 0.13
Baloch 60 202 23 14 0.2277 0.1386 0.297
Gilaki 24 198 11 2 0.1111 0.0202 0.1212
Kurd 18 200 8 2 0.08 0.02 0.09
Lur 17 200 8 1 0.08 0.01 0.085
Mazani 48 200 18 12 0.18 0.12 0.24
Persian 10 200 5 0 0.05 0.0 0.05
Persian Gulf Islander 58 200 21 16 0.21 0.16 0.29
Sistani 40 200 15 10 0.15 0.1 0.2
Turkmen 10 200 3 4 0.03 0.04 0.05
Zartoshti 78 200 32 14 0.32 0.14 0.39
Total 416 2404 168 80 0.13976705490848584 0.06655574043261231 0.173
Annotations

This variant falls on 7 transcripts in 2 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) 2.137
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