12:21623179 T / C

dbSNP
rs17849408
Allele Frequency
0.1165
Allele Count
280 / 2404
UCSC
12-21623179-T-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
51629.2
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 2 20 0.0196 0.1961 0.1176
Azeri 24 200 1 22 0.01 0.22 0.12
Baloch 27 202 3 21 0.0297 0.2079 0.1337
Gilaki 11 198 1 9 0.0101 0.0909 0.05556
Kurd 16 200 0 16 0.0 0.16 0.08
Lur 26 200 4 18 0.04 0.18 0.13
Mazani 22 200 0 22 0.0 0.22 0.11
Persian 15 200 3 9 0.03 0.09 0.075
Persian Gulf Islander 18 200 1 16 0.01 0.16 0.09
Sistani 28 200 4 20 0.04 0.2 0.14
Turkmen 35 200 1 33 0.01 0.33 0.175
Zartoshti 34 200 3 28 0.03 0.28 0.17
Total 280 2404 23 234 0.01913477537437604 0.194675540765391 0.1165
Annotations

This variant falls on 4 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) 2.431
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