17:41201364 T / C

dbSNP
rs8176305
Allele Frequency
0.06375
Allele Count
102 / 1600
UCSC
17-41201364-T-C
ClinVar
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ExAC Browser
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NHLBI ESP
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Ensembl
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gnomAD Browser
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Site Quality
42943.3
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
Lur 14 200 0 14 0.0 0.14 0.07
Baloch 14 200 1 12 0.01 0.12 0.07
Azeri 15 200 1 13 0.01 0.13 0.075
Kurd 12 200 0 12 0.0 0.12 0.06
Persian Gulf Islander 11 200 1 9 0.01 0.09 0.055
Arab 16 200 2 12 0.02 0.12 0.08
Persian 10 200 0 10 0.0 0.1 0.05
Turkmen 10 200 0 10 0.0 0.1 0.05
Total 102 1600 5 92 0.00625 0.115 0.06375
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 ?

Quality Metrics

Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above