12:21600639 T / G

dbSNP
rs11046055
Allele Frequency
0.2417
Allele Count
581 / 2404
UCSC
12-21600639-T-G
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
24842.3
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 43 204 20 3 0.1961 0.0294 0.2108
Azeri 54 200 23 8 0.23 0.08 0.27
Baloch 53 202 20 13 0.198 0.1287 0.2624
Gilaki 49 198 23 3 0.2323 0.0303 0.2475
Kurd 36 200 15 6 0.15 0.06 0.18
Lur 48 200 22 4 0.22 0.04 0.24
Mazani 68 200 28 12 0.28 0.12 0.34
Persian 16 200 6 4 0.06 0.04 0.08
Persian Gulf Islander 51 200 21 9 0.21 0.09 0.255
Sistani 35 200 15 5 0.15 0.05 0.175
Turkmen 39 200 17 5 0.17 0.05 0.195
Zartoshti 89 200 37 15 0.37 0.15 0.445
Total 581 2404 247 87 0.20549084858569053 0.0723793677204659 0.2417
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) 0.002
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