1:2433894 G / A

dbSNP
rs55874156
Allele Frequency
0.02246
Allele Count
54 / 2404
UCSC
1-2433894-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
29000.9
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 6 204 0 6 0.0 0.0588 0.02941
Azeri 8 200 0 8 0.0 0.08 0.04
Baloch 3 202 0 3 0.0 0.0297 0.01485
Gilaki 4 198 0 4 0.0 0.0404 0.0202
Kurd 4 200 0 4 0.0 0.04 0.02
Lur 2 200 0 2 0.0 0.02 0.01
Mazani 5 200 0 5 0.0 0.05 0.025
Persian 5 200 0 5 0.0 0.05 0.025
Persian Gulf Islander 4 200 0 4 0.0 0.04 0.02
Sistani 3 200 0 3 0.0 0.03 0.015
Turkmen 8 200 1 6 0.01 0.06 0.04
Zartoshti 2 200 0 2 0.0 0.02 0.01
Total 54 2404 1 52 0.0008319467554076539 0.04326123128119801 0.02246
Annotations

This variant falls on 9 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) Damaging
Polyphen2 HVAR Pred (C) Benign
MutationTaster Pred (C) Tolerated
MutationAssessor Pred (C) ?
FATHMM Pred (C) Tolerated
FATHMM MKL Coding Pred (C) Tolerated
N of 6 Predicted Damaging 1 of 6 Predicted as Damaging
N of 6 Predicted Tolerated 4 of 6 Predicted as Tolerated
MetaSVM Pred Tolerated
MetaLR Pred Tolerated
GERP++ RS -5.7
CADD Score (Phred Scale) 0.297
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score 0.009

Quality Metrics

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