1:2416357 G / A

dbSNP
rs4648639
Allele Frequency
0.1235
Allele Count
297 / 2404
UCSC
1-2416357-G-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
9767.34
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 24 204 12 0 0.1176 0.0 0.1176
Azeri 18 200 8 2 0.08 0.02 0.09
Baloch 30 202 14 2 0.1386 0.0198 0.1485
Gilaki 18 198 9 0 0.0909 0.0 0.09091
Kurd 24 200 11 2 0.11 0.02 0.12
Lur 12 200 6 0 0.06 0.0 0.06
Mazani 36 200 17 2 0.17 0.02 0.18
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 35 200 16 3 0.16 0.03 0.175
Sistani 32 200 14 4 0.14 0.04 0.16
Turkmen 6 200 3 0 0.03 0.0 0.03
Zartoshti 56 200 27 2 0.27 0.02 0.28
Total 297 2404 140 17 0.11647254575707154 0.014143094841930116 0.1235
Annotations

This variant falls on 7 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) 4.595
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