1:2432464 A / C

dbSNP
rs2477708
Allele Frequency
0.1385
Allele Count
333 / 2404
UCSC
1-2432464-A-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
15157.9
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 33 204 11 11 0.1078 0.1078 0.1618
Azeri 37 200 13 11 0.13 0.11 0.185
Baloch 32 202 12 8 0.1188 0.0792 0.1584
Gilaki 12 198 5 2 0.0505 0.0202 0.06061
Kurd 13 200 3 7 0.03 0.07 0.065
Lur 24 200 9 6 0.09 0.06 0.12
Mazani 27 200 11 5 0.11 0.05 0.135
Persian 23 200 9 5 0.09 0.05 0.115
Persian Gulf Islander 46 200 15 16 0.15 0.16 0.23
Sistani 29 200 11 7 0.11 0.07 0.145
Turkmen 31 200 11 9 0.11 0.09 0.155
Zartoshti 26 200 7 12 0.07 0.12 0.13
Total 333 2404 117 99 0.0973377703826955 0.08236272878535773 0.1385
Annotations

This variant falls on 9 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) 1.477
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