12:21595492 T / C

dbSNP
rs11608659
Allele Frequency
0.08111
Allele Count
195 / 2404
UCSC
12-21595492-T-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
6001.78
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 8 204 4 0 0.0392 0.0 0.03922
Azeri 6 200 3 0 0.03 0.0 0.03
Baloch 14 202 7 0 0.0693 0.0 0.06931
Gilaki 4 198 2 0 0.0202 0.0 0.0202
Kurd 14 200 7 0 0.07 0.0 0.07
Lur 13 200 6 1 0.06 0.01 0.065
Mazani 21 200 10 1 0.1 0.01 0.105
Persian 12 200 6 0 0.06 0.0 0.06
Persian Gulf Islander 27 200 12 3 0.12 0.03 0.135
Sistani 29 200 13 3 0.13 0.03 0.145
Turkmen 14 200 7 0 0.07 0.0 0.07
Zartoshti 33 200 15 3 0.15 0.03 0.165
Total 195 2404 92 11 0.07653910149750416 0.009151414309484194 0.08111
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) 1.949
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