12:21595724 G / A

dbSNP
rs7137034
Allele Frequency
0.08111
Allele Count
195 / 2404
UCSC
12-21595724-G-A
ClinVar
Click to search for variant in Clinvar
Ensembl
Click to search for variant in Ensembl
gnomAD Browser
Click to search for variant in gnomAD Browser
Site Quality
5310.26
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 11 204 4 3 0.0392 0.0294 0.05392
Azeri 12 200 6 0 0.06 0.0 0.06
Baloch 14 202 6 2 0.0594 0.0198 0.06931
Gilaki 8 198 4 0 0.0404 0.0 0.0404
Kurd 9 200 4 1 0.04 0.01 0.045
Lur 12 200 6 0 0.06 0.0 0.06
Mazani 14 200 6 2 0.06 0.02 0.07
Persian 26 200 12 2 0.12 0.02 0.13
Persian Gulf Islander 21 200 10 1 0.1 0.01 0.105
Sistani 21 200 10 1 0.1 0.01 0.105
Turkmen 22 200 11 0 0.11 0.0 0.11
Zartoshti 25 200 12 1 0.12 0.01 0.125
Total 195 2404 91 13 0.07570715474209651 0.010815307820299502 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) 4.379
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