1:2409360 G / A

dbSNP
rs59417818
Allele Frequency
0.1839
Allele Count
442 / 2404
UCSC
1-2409360-G-A
ClinVar
Click to search for variant in Clinvar
Ensembl
Click to search for variant in Ensembl
gnomAD Browser
Click to search for variant in gnomAD Browser
Site Quality
18393.2
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 31 204 15 1 0.1471 0.0098 0.152
Azeri 40 200 18 4 0.18 0.04 0.2
Baloch 46 202 21 4 0.2079 0.0396 0.2277
Gilaki 19 198 9 1 0.0909 0.0101 0.09596
Kurd 19 200 8 3 0.08 0.03 0.095
Lur 25 200 11 3 0.11 0.03 0.125
Mazani 53 200 24 5 0.24 0.05 0.265
Persian 25 200 12 1 0.12 0.01 0.125
Persian Gulf Islander 35 200 14 7 0.14 0.07 0.175
Sistani 51 200 22 7 0.22 0.07 0.255
Turkmen 27 200 12 3 0.12 0.03 0.135
Zartoshti 71 200 31 9 0.31 0.09 0.355
Total 442 2404 197 48 0.1638935108153078 0.03993344425956739 0.1839
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) 1.449
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