1:2418625 C / T

dbSNP
rs7512269
Allele Frequency
0.07238
Allele Count
174 / 2404
UCSC
1-2418625-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
167830.0
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 15 204 2 11 0.0196 0.1078 0.07353
Azeri 11 200 0 11 0.0 0.11 0.055
Baloch 15 202 1 13 0.0099 0.1287 0.07426
Gilaki 17 198 0 17 0.0 0.1717 0.08586
Kurd 14 200 2 10 0.02 0.1 0.07
Lur 12 200 0 12 0.0 0.12 0.06
Mazani 12 200 1 10 0.01 0.1 0.06
Persian 13 200 1 11 0.01 0.11 0.065
Persian Gulf Islander 14 200 0 14 0.0 0.14 0.07
Sistani 25 200 2 21 0.02 0.21 0.125
Turkmen 20 200 1 18 0.01 0.18 0.1
Zartoshti 6 200 0 6 0.0 0.06 0.03
Total 174 2404 10 154 0.008319467554076539 0.1281198003327787 0.07238
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) 0.466
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