1:990984 G / A

dbSNP
rs8014
Allele Frequency
0.3856
Allele Count
927 / 2404
UCSC
1-990984-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
41621.5
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 72 204 35 2 0.3431 0.0196 0.3529
Azeri 63 200 30 3 0.3 0.03 0.315
Baloch 97 202 48 1 0.4752 0.0099 0.4802
Gilaki 48 198 24 0 0.2424 0.0 0.2424
Kurd 73 200 35 3 0.35 0.03 0.365
Lur 59 200 29 1 0.29 0.01 0.295
Mazani 99 200 47 5 0.47 0.05 0.495
Persian 72 200 36 0 0.36 0.0 0.36
Persian Gulf Islander 96 200 47 2 0.47 0.02 0.48
Sistani 93 200 46 1 0.46 0.01 0.465
Turkmen 62 200 31 0 0.31 0.0 0.31
Zartoshti 93 200 44 5 0.44 0.05 0.465
Total 927 2404 452 23 0.37603993344425957 0.01913477537437604 0.3856
Annotations

This variant falls on 3 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) 1.667
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