1:2427368 T / C

dbSNP
rs3762443
Allele Frequency
0.07737
Allele Count
186 / 2404
UCSC
1-2427368-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
7940.58
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 17 204 7 3 0.0686 0.0294 0.08333
Azeri 10 200 3 4 0.03 0.04 0.05
Baloch 19 202 8 3 0.0792 0.0297 0.09406
Gilaki 11 198 3 5 0.0303 0.0505 0.05556
Kurd 17 200 7 3 0.07 0.03 0.085
Lur 9 200 3 3 0.03 0.03 0.045
Mazani 24 200 10 4 0.1 0.04 0.12
Persian 5 200 2 1 0.02 0.01 0.025
Persian Gulf Islander 26 200 9 8 0.09 0.08 0.13
Sistani 19 200 7 5 0.07 0.05 0.095
Turkmen 13 200 5 3 0.05 0.03 0.065
Zartoshti 16 200 2 12 0.02 0.12 0.08
Total 186 2404 66 54 0.05490848585690516 0.04492512479201331 0.07737
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) 0.611
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