12:21651786 A / G

dbSNP
rs6487235
Allele Frequency
0.06988
Allele Count
168 / 2404
UCSC
12-21651786-A-G
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
5049.36
Filter Status
PASS
1e+32e+33e+31e+42e+43e+41e+52e+53e+50.00.51.01.52.02.53.03.54.0
This is the site quality distribution for all variants with 0.05 < AF < 0.1 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 24 200 12 0 0.12 0.0 0.12
Gilaki 20 198 10 0 0.101 0.0 0.101
Mazani 20 200 10 0 0.1 0.0 0.1
Kurd 14 200 7 0 0.07 0.0 0.07
Persian Gulf Islander 14 200 7 0 0.07 0.0 0.07
Turkmen 14 200 7 0 0.07 0.0 0.07
Arab 14 204 7 0 0.0686 0.0 0.06863
Zartoshti 12 200 6 0 0.06 0.0 0.06
Baloch 12 202 6 0 0.0594 0.0 0.05941
Azeri 10 200 5 0 0.05 0.0 0.05
Persian 8 200 4 0 0.04 0.0 0.04
Lur 6 200 3 0 0.03 0.0 0.03
Total 168 2404 84 0 0.06988352745424292 0.0 0.06988
Annotations

This variant falls on 8 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) 1.509
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score ?

Quality Metrics

102030405060708090010203040506070
Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above