12:21613867 A / G

dbSNP
rs7138359
Allele Frequency
0.1077
Allele Count
259 / 2404
UCSC
12-21613867-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
11121.8
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 24 204 10 4 0.098 0.0392 0.1176
Azeri 23 200 10 3 0.1 0.03 0.115
Baloch 35 202 14 7 0.1386 0.0693 0.1733
Gilaki 16 198 7 2 0.0707 0.0202 0.08081
Kurd 36 200 14 8 0.14 0.08 0.18
Lur 4 200 2 0 0.02 0.0 0.02
Mazani 29 200 13 3 0.13 0.03 0.145
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 46 200 18 10 0.18 0.1 0.23
Sistani 17 200 8 1 0.08 0.01 0.085
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 27 200 11 5 0.11 0.05 0.135
Total 259 2404 108 43 0.08985024958402663 0.03577371048252912 0.1077
Annotations

This variant falls on 8 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) 2.176
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