1:2415497 T / C

dbSNP
rs61763948
Allele Frequency
0.0183
Allele Count
44 / 2404
UCSC
1-2415497-T-C
ClinVar
Click to search for variant in Clinvar
Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
1735.28
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 0 204 0 0 0.0 0.0 0
Azeri 4 200 2 0 0.02 0.0 0.02
Baloch 4 202 2 0 0.0198 0.0 0.0198
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 1 200 0 1 0.0 0.01 0.005
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 6 200 3 0 0.03 0.0 0.03
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 2 200 1 0 0.01 0.0 0.01
Sistani 10 200 4 2 0.04 0.02 0.05
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 11 200 5 1 0.05 0.01 0.055
Total 44 2404 20 4 0.016638935108153077 0.0033277870216306157 0.0183
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) 0.278
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