1:2433974 G / A

dbSNP
rs141214636
Allele Frequency
0.0008319
Allele Count
2 / 2404
UCSC
1-2433974-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
1544.69
Filter Status
PASS
2e+11e+22e+21e+32e+31e+42e+41e+5012345678910111213
This is the site quality distribution for all doubletons in Iranome.
 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
Persian Gulf Islander 1 200 0 1 0.0 0.01 0.005
Baloch 1 202 0 1 0.0 0.0099 0.00495
Arab 0 204 0 0 0.0 0.0 0
Azeri 0 200 0 0 0.0 0.0 0
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 0 200 0 0 0.0 0.0 0
Lur 0 200 0 0 0.0 0.0 0
Mazani 0 200 0 0 0.0 0.0 0
Persian 0 200 0 0 0.0 0.0 0
Sistani 0 200 0 0 0.0 0.0 0
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 0 200 0 0 0.0 0.0 0
Total 2 2404 0 2 0.0 0.0016638935108153079 0.0008319
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) Tolerated
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 0 of 6 Predicted as Damaging
N of 6 Predicted Tolerated 5 of 6 Predicted as Tolerated
MetaSVM Pred Tolerated
MetaLR Pred Tolerated
GERP++ RS 4.37
CADD Score (Phred Scale) 1.946
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score 0.024

Quality Metrics

1020304050607080900.00.10.20.30.40.50.60.70.80.91.0
Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above