1:2436256 G / A

dbSNP
rs138038983
Allele Frequency
0.03203
Allele Count
77 / 2404
UCSC
1-2436256-G-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
133660.0
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 9 204 0 9 0.0 0.0882 0.04412
Azeri 9 200 0 9 0.0 0.09 0.045
Baloch 3 202 0 3 0.0 0.0297 0.01485
Gilaki 7 198 0 7 0.0 0.0707 0.03535
Kurd 3 200 0 3 0.0 0.03 0.015
Lur 11 200 0 11 0.0 0.11 0.055
Mazani 8 200 1 6 0.01 0.06 0.04
Persian 4 200 0 4 0.0 0.04 0.02
Persian Gulf Islander 3 200 0 3 0.0 0.03 0.015
Sistani 1 200 0 1 0.0 0.01 0.005
Turkmen 4 200 0 4 0.0 0.04 0.02
Zartoshti 15 200 0 15 0.0 0.15 0.075
Total 77 2404 1 75 0.0008319467554076539 0.06239600665557404 0.03203
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) 1.136
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score 0.028

Quality Metrics

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