1:990417 T / C

dbSNP
rs2465136
Allele Frequency
0.2879
Allele Count
692 / 2404
UCSC
1-990417-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
133654.0
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 64 204 8 48 0.0784 0.4706 0.3137
Azeri 59 200 12 35 0.12 0.35 0.295
Baloch 69 202 14 41 0.1386 0.4059 0.3416
Gilaki 51 198 11 29 0.1111 0.2929 0.2576
Kurd 58 200 8 42 0.08 0.42 0.29
Lur 55 200 7 41 0.07 0.41 0.275
Mazani 53 200 8 37 0.08 0.37 0.265
Persian 57 200 10 37 0.1 0.37 0.285
Persian Gulf Islander 45 200 4 37 0.04 0.37 0.225
Sistani 59 200 13 33 0.13 0.33 0.295
Turkmen 44 200 11 22 0.11 0.22 0.22
Zartoshti 78 200 17 44 0.17 0.44 0.39
Total 692 2404 123 446 0.10232945091514144 0.37104825291181365 0.2879
Annotations

This variant falls on 3 transcripts in 2 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) 0.486
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