12:21595414 A / C

dbSNP
rs7136265
Allele Frequency
0.1036
Allele Count
249 / 2404
UCSC
12-21595414-A-C
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
8001.65
Filter Status
PASS
2e+33e+34e+35e+31e+42e+43e+44e+45e+41e+50.00.51.01.52.02.53.0
This is the site quality distribution for all variants with 0.1 < AF < 0.2 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 30 200 15 0 0.15 0.0 0.15
Zartoshti 28 200 13 2 0.13 0.02 0.14
Persian 25 200 11 3 0.11 0.03 0.125
Sistani 25 200 12 1 0.12 0.01 0.125
Azeri 20 200 10 0 0.1 0.0 0.1
Kurd 20 200 10 0 0.1 0.0 0.1
Lur 18 200 9 0 0.09 0.0 0.09
Persian Gulf Islander 18 200 9 0 0.09 0.0 0.09
Arab 18 204 7 4 0.0686 0.0392 0.08824
Baloch 17 202 7 3 0.0693 0.0297 0.08416
Turkmen 16 200 7 2 0.07 0.02 0.08
Gilaki 14 198 7 0 0.0707 0.0 0.07071
Total 249 2404 117 15 0.0973377703826955 0.012479201331114808 0.1036
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) 2.35
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