1:2424894 T / C

dbSNP
rs2477702
Allele Frequency
0.08735
Allele Count
210 / 2404
UCSC
1-2424894-T-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
6426.81
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 2 3 0.0196 0.0294 0.03431
Azeri 12 200 6 0 0.06 0.0 0.06
Baloch 25 202 10 5 0.099 0.0495 0.1238
Gilaki 13 198 6 1 0.0606 0.0101 0.06566
Kurd 18 200 7 4 0.07 0.04 0.09
Lur 11 200 5 1 0.05 0.01 0.055
Mazani 18 200 7 4 0.07 0.04 0.09
Persian 12 200 6 0 0.06 0.0 0.06
Persian Gulf Islander 31 200 12 7 0.12 0.07 0.155
Sistani 27 200 12 3 0.12 0.03 0.135
Turkmen 13 200 6 1 0.06 0.01 0.065
Zartoshti 23 200 10 3 0.1 0.03 0.115
Total 210 2404 89 32 0.0740432612312812 0.026622296173044926 0.08735
Annotations

This variant falls on 8 transcripts in 2 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) 0.758
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