12:21608633 T / G

dbSNP
rs7310494
Allele Frequency
0.0208
Allele Count
50 / 2404
UCSC
12-21608633-T-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
1507.34
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
Mazani 14 200 7 0 0.07 0.0 0.07
Sistani 8 200 4 0 0.04 0.0 0.04
Zartoshti 6 200 3 0 0.03 0.0 0.03
Azeri 4 200 2 0 0.02 0.0 0.02
Lur 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 4 200 2 0 0.02 0.0 0.02
Baloch 4 202 2 0 0.0198 0.0 0.0198
Kurd 2 200 1 0 0.01 0.0 0.01
Persian 2 200 1 0 0.01 0.0 0.01
Arab 2 204 1 0 0.0098 0.0 0.009804
Gilaki 0 198 0 0 0.0 0.0 0
Turkmen 0 200 0 0 0.0 0.0 0
Total 50 2404 25 0 0.020798668885191347 0.0 0.0208
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) 2.92
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score ?

Quality Metrics

10203040506070809002468101214161820
Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above