1:2408834 G / A

dbSNP
rs11588930
Allele Frequency
0.03577
Allele Count
86 / 2404
UCSC
1-2408834-G-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
3481.2
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 7 2 0.0686 0.0196 0.07843
Azeri 10 200 3 4 0.03 0.04 0.05
Baloch 5 202 1 3 0.0099 0.0297 0.02475
Gilaki 4 198 1 2 0.0101 0.0202 0.0202
Kurd 1 200 0 1 0.0 0.01 0.005
Lur 9 200 3 3 0.03 0.03 0.045
Mazani 0 200 0 0 0.0 0.0 0
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 3 200 0 3 0.0 0.03 0.015
Sistani 6 200 3 0 0.03 0.0 0.03
Turkmen 3 200 1 1 0.01 0.01 0.015
Zartoshti 21 200 5 11 0.05 0.11 0.105
Total 86 2404 28 30 0.02329450915141431 0.024958402662229616 0.03577
Annotations

This variant falls on 6 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) 2.086
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