1:17730 C / A

dbSNP
rs1190943651
Allele Frequency
0.04118
Allele Count
99 / 2404
UCSC
1-17730-C-A
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
5781.43
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 4 204 0 4 0.0 0.0392 0.01961
Azeri 7 200 0 7 0.0 0.07 0.035
Baloch 12 202 0 12 0.0 0.1188 0.05941
Gilaki 12 198 0 12 0.0 0.1212 0.06061
Kurd 4 200 0 4 0.0 0.04 0.02
Lur 3 200 0 3 0.0 0.03 0.015
Mazani 13 200 0 13 0.0 0.13 0.065
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 7 200 0 7 0.0 0.07 0.035
Sistani 18 200 1 16 0.01 0.16 0.09
Turkmen 1 200 0 1 0.0 0.01 0.005
Zartoshti 18 200 0 18 0.0 0.18 0.09
Total 99 2404 1 97 0.0008319467554076539 0.08069883527454243 0.04118
Annotations

This variant falls on 5 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) 7.248
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