1:982994 T / C

dbSNP
rs10267
Allele Frequency
0.9081
Allele Count
2183 / 2404
UCSC
1-982994-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
4576700.0
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 189 204 87 15 0.8529 0.1471 0.9265
Azeri 182 200 83 16 0.83 0.16 0.91
Baloch 185 202 85 15 0.8416 0.1485 0.9158
Gilaki 178 198 79 20 0.798 0.202 0.899
Kurd 177 200 79 19 0.79 0.19 0.885
Lur 187 200 88 11 0.88 0.11 0.935
Mazani 181 200 81 19 0.81 0.19 0.905
Persian 183 200 84 15 0.84 0.15 0.915
Persian Gulf Islander 180 200 80 20 0.8 0.2 0.9
Sistani 187 200 87 13 0.87 0.13 0.935
Turkmen 186 200 87 12 0.87 0.12 0.93
Zartoshti 168 200 72 24 0.72 0.24 0.84
Total 2183 2404 992 199 0.8252911813643927 0.16555740432612312 0.9081
Annotations

This variant falls on 3 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) 0.042
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