12:21607512 T / G

dbSNP
rs3919535
Allele Frequency
0.02704
Allele Count
65 / 2404
UCSC
12-21607512-T-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
3138.57
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 4 204 2 0 0.0196 0.0 0.01961
Azeri 7 200 3 1 0.03 0.01 0.035
Baloch 6 202 3 0 0.0297 0.0 0.0297
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 4 200 2 0 0.02 0.0 0.02
Lur 4 200 2 0 0.02 0.0 0.02
Mazani 4 200 2 0 0.02 0.0 0.02
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 8 200 4 0 0.04 0.0 0.04
Sistani 12 200 6 0 0.06 0.0 0.06
Turkmen 3 200 1 1 0.01 0.01 0.015
Zartoshti 7 200 3 1 0.03 0.01 0.035
Total 65 2404 31 3 0.025790349417637273 0.0024958402662229617 0.02704
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) 4.459
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