1:2425992 C / T

dbSNP
rs2477703
Allele Frequency
0.3369
Allele Count
810 / 2404
UCSC
1-2425992-C-T
ClinVar
Click to search for variant in Clinvar
Ensembl
Click to search for variant in Ensembl
gnomAD Browser
Click to search for variant in gnomAD Browser
Site Quality
44803.5
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 65 204 31 3 0.3039 0.0294 0.3186
Azeri 48 200 22 4 0.22 0.04 0.24
Baloch 94 202 42 10 0.4158 0.099 0.4653
Gilaki 66 198 29 8 0.2929 0.0808 0.3333
Kurd 52 200 21 10 0.21 0.1 0.26
Lur 39 200 19 1 0.19 0.01 0.195
Mazani 100 200 46 8 0.46 0.08 0.5
Persian 24 200 11 2 0.11 0.02 0.12
Persian Gulf Islander 66 200 28 10 0.28 0.1 0.33
Sistani 110 200 50 10 0.5 0.1 0.55
Turkmen 23 200 11 1 0.11 0.01 0.115
Zartoshti 123 200 56 11 0.56 0.11 0.615
Total 810 2404 366 78 0.30449251247920134 0.064891846921797 0.3369
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) 7.73
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