12:21593716 A / G


Site Quality
1217.48
Filter Status
PASS
1e+32e+31e+42e+41e+52e+51e+6012345678
This is the site quality distribution for all variants with 0.02 < AF < 0.05 in Iranome.
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
Sistani 16 200 8 0 0.08 0.0 0.08
Persian Gulf Islander 6 200 3 0 0.03 0.0 0.03
Baloch 6 202 3 0 0.0297 0.0 0.0297
Lur 4 200 2 0 0.02 0.0 0.02
Turkmen 4 200 2 0 0.02 0.0 0.02
Gilaki 3 198 1 1 0.0101 0.0101 0.01515
Azeri 2 200 1 0 0.01 0.0 0.01
Kurd 2 200 1 0 0.01 0.0 0.01
Persian 2 200 1 0 0.01 0.0 0.01
Zartoshti 2 200 1 0 0.01 0.0 0.01
Arab 2 204 1 0 0.0098 0.0 0.009804
Mazani 0 200 0 0 0.0 0.0 0
Total 49 2404 24 1 0.019966722129783693 0.0008319467554076539 0.02038
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) 4.465
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score ?

Quality Metrics

102030405060708090024681012141618
Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above