1:2430087 _ / GTGGGGGCC

dbSNP
rs142848828
Allele Frequency
0.03078
Allele Count
74 / 2404
UCSC
1-2430087-_-GTGGGGGCC
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
15192.5
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 8 204 1 6 0.0098 0.0588 0.03922
Azeri 3 200 0 3 0.0 0.03 0.015
Baloch 9 202 1 7 0.0099 0.0693 0.04455
Gilaki 1 198 0 1 0.0 0.0101 0.005051
Kurd 3 200 0 3 0.0 0.03 0.015
Lur 3 200 0 3 0.0 0.03 0.015
Mazani 4 200 1 2 0.01 0.02 0.02
Persian 11 200 0 11 0.0 0.11 0.055
Persian Gulf Islander 8 200 0 8 0.0 0.08 0.04
Sistani 14 200 2 10 0.02 0.1 0.07
Turkmen 8 200 1 6 0.01 0.06 0.04
Zartoshti 2 200 0 2 0.0 0.02 0.01
Total 74 2404 6 62 0.004991680532445923 0.051580698835274545 0.03078
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) 10.58
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