1:2416663 _ / GCTCTCTGGAC

dbSNP
rs70956308
Allele Frequency
0.178
Allele Count
428 / 2404
UCSC
1-2416663-_-GCTCTCTGGAC
ClinVar
Click to search for variant in Clinvar
Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
26688.1
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 42 204 20 2 0.1961 0.0196 0.2059
Azeri 22 200 11 0 0.11 0.0 0.11
Baloch 40 202 18 4 0.1782 0.0396 0.198
Gilaki 24 198 12 0 0.1212 0.0 0.1212
Kurd 14 200 7 0 0.07 0.0 0.07
Lur 24 200 12 0 0.12 0.0 0.12
Mazani 60 200 26 8 0.26 0.08 0.3
Persian 26 200 13 0 0.13 0.0 0.13
Persian Gulf Islander 33 200 16 1 0.16 0.01 0.165
Sistani 63 200 29 5 0.29 0.05 0.315
Turkmen 25 200 10 5 0.1 0.05 0.125
Zartoshti 55 200 27 1 0.27 0.01 0.275
Total 428 2404 201 26 0.16722129783693843 0.021630615640599003 0.178
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) 1.425
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