Variant: 1:2436303 A / C

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	11	204	1	9	0.0098	0.0882	0.05392
Azeri	4	200	0	4	0.0	0.04	0.02
Baloch	6	202	0	6	0.0	0.0594	0.0297
Gilaki	5	198	0	5	0.0	0.0505	0.02525
Kurd	6	200	0	6	0.0	0.06	0.03
Lur	6	200	0	6	0.0	0.06	0.03
Mazani	1	200	0	1	0.0	0.01	0.005
Persian	6	200	0	6	0.0	0.06	0.03
Persian Gulf Islander	0	200	0	0	0.0	0.0	0
Sistani	1	200	0	1	0.0	0.01	0.005
Turkmen	5	200	0	5	0.0	0.05	0.025
Zartoshti	0	200	0	0	0.0	0.0	0
Total	51	2404	1	49	0.0008319467554076539	0.04076539101497504	0.02121

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)	Damaging
Polyphen2 HVAR Pred (C)	Probably damaging
MutationTaster Pred (C)	Damaging
MutationAssessor Pred (C)	Predicted functional (medium)
FATHMM Pred (C)	Tolerated
FATHMM MKL Coding Pred (C)	Damaging
N of 6 Predicted Damaging	5 of 6 Predicted as Damaging
N of 6 Predicted Tolerated	1 of 6 Predicted as Tolerated
MetaSVM Pred	Tolerated
MetaLR Pred	Tolerated
GERP++ RS	4.55
CADD Score (Phred Scale)	3.252
Ada Score	?
RF Score	?
PDIVAS Score	?
ConSplice Score	?
REVEL Score	0.171,0.178

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