1:2434744 C / T

dbSNP
rs3814298
Allele Frequency
0.1681
Allele Count
404 / 2404
UCSC
1-2434744-C-T
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
29993.0
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 37 204 14 9 0.1373 0.0882 0.1814
Azeri 35 200 11 13 0.11 0.13 0.175
Baloch 48 202 12 24 0.1188 0.2376 0.2376
Gilaki 15 198 2 11 0.0202 0.1111 0.07576
Kurd 48 200 17 14 0.17 0.14 0.24
Lur 29 200 8 13 0.08 0.13 0.145
Mazani 48 200 8 32 0.08 0.32 0.24
Persian 16 200 6 4 0.06 0.04 0.08
Persian Gulf Islander 49 200 12 25 0.12 0.25 0.245
Sistani 34 200 5 24 0.05 0.24 0.17
Turkmen 17 200 8 1 0.08 0.01 0.085
Zartoshti 28 200 5 18 0.05 0.18 0.14
Total 404 2404 108 188 0.08985024958402663 0.15640599001663893 0.1681
Annotations

This variant falls on 8 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) 7.655
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