1:990517 C / T

dbSNP
rs2710872
Allele Frequency
0.8166
Allele Count
1963 / 2404
UCSC
1-990517-C-T
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
Click to search for variant in gnomAD Browser
Site Quality
232799.0
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 181 204 86 9 0.8431 0.0882 0.8873
Azeri 161 200 74 13 0.74 0.13 0.805
Baloch 185 202 86 13 0.8515 0.1287 0.9158
Gilaki 146 198 68 10 0.6869 0.101 0.7374
Kurd 163 200 72 19 0.72 0.19 0.815
Lur 173 200 82 9 0.82 0.09 0.865
Mazani 162 200 73 16 0.73 0.16 0.81
Persian 160 200 73 14 0.73 0.14 0.8
Persian Gulf Islander 172 200 78 16 0.78 0.16 0.86
Sistani 180 200 85 10 0.85 0.1 0.9
Turkmen 122 200 59 4 0.59 0.04 0.61
Zartoshti 158 200 67 24 0.67 0.24 0.79
Total 1963 2404 903 157 0.7512479201331115 0.13061564059900166 0.8166
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) 5.985
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