1:2415202 T / G

dbSNP
rs78102271
Allele Frequency
0.02745
Allele Count
66 / 2404
UCSC
1-2415202-T-G
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
3033.16
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 7 204 3 1 0.0294 0.0098 0.03431
Azeri 5 200 2 1 0.02 0.01 0.025
Baloch 5 202 2 1 0.0198 0.0099 0.02475
Gilaki 4 198 2 0 0.0202 0.0 0.0202
Kurd 7 200 3 1 0.03 0.01 0.035
Lur 4 200 2 0 0.02 0.0 0.02
Mazani 10 200 4 2 0.04 0.02 0.05
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 2 200 1 0 0.01 0.0 0.01
Sistani 4 200 2 0 0.02 0.0 0.02
Turkmen 4 200 2 0 0.02 0.0 0.02
Zartoshti 8 200 4 0 0.04 0.0 0.04
Total 66 2404 30 6 0.024958402662229616 0.004991680532445923 0.02745
Annotations

This variant falls on 7 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) 3.277
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