12:21632439 G / A

dbSNP
rs1860946
Allele Frequency
0.129
Allele Count
310 / 2404
UCSC
12-21632439-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
11066.2
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 18 204 9 0 0.0882 0.0 0.08824
Azeri 16 200 8 0 0.08 0.0 0.08
Baloch 26 202 13 0 0.1287 0.0 0.1287
Gilaki 22 198 11 0 0.1111 0.0 0.1111
Kurd 10 200 5 0 0.05 0.0 0.05
Lur 8 200 4 0 0.04 0.0 0.04
Mazani 46 200 23 0 0.23 0.0 0.23
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 40 200 20 0 0.2 0.0 0.2
Sistani 42 200 21 0 0.21 0.0 0.21
Turkmen 8 200 4 0 0.04 0.0 0.04
Zartoshti 68 200 34 0 0.34 0.0 0.34
Total 310 2404 155 0 0.12895174708818635 0.0 0.129
Annotations

This variant falls on 2 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) 1.309
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