17:41201364 T / C

dbSNP
rs8176305
Allele Frequency
0.06073
Allele Count
146 / 2404
UCSC
17-41201364-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
54196.0
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 16 204 2 12 0.0196 0.1176 0.07843
Azeri 15 200 1 13 0.01 0.13 0.075
Baloch 13 202 1 11 0.0099 0.1089 0.06436
Gilaki 17 198 0 17 0.0 0.1717 0.08586
Kurd 12 200 0 12 0.0 0.12 0.06
Lur 15 200 0 15 0.0 0.15 0.075
Mazani 7 200 0 7 0.0 0.07 0.035
Persian 10 200 0 10 0.0 0.1 0.05
Persian Gulf Islander 11 200 1 9 0.01 0.09 0.055
Sistani 12 200 1 10 0.01 0.1 0.06
Turkmen 10 200 0 10 0.0 0.1 0.05
Zartoshti 8 200 0 8 0.0 0.08 0.04
Total 146 2404 6 134 0.004991680532445923 0.11148086522462562 0.06073
Annotations

This variant falls on 14 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) 0.657
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