12:21611630 G / A

dbSNP
rs12423151
Allele Frequency
0.1202
Allele Count
289 / 2404
UCSC
12-21611630-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
7908.55
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 20 204 10 0 0.098 0.0 0.09804
Azeri 35 200 17 1 0.17 0.01 0.175
Baloch 28 202 14 0 0.1386 0.0 0.1386
Gilaki 18 198 8 2 0.0808 0.0202 0.09091
Kurd 29 200 14 1 0.14 0.01 0.145
Lur 16 200 8 0 0.08 0.0 0.08
Mazani 25 200 12 1 0.12 0.01 0.125
Persian 24 200 12 0 0.12 0.0 0.12
Persian Gulf Islander 31 200 15 1 0.15 0.01 0.155
Sistani 8 200 4 0 0.04 0.0 0.04
Turkmen 10 200 4 2 0.04 0.02 0.05
Zartoshti 45 200 21 3 0.21 0.03 0.225
Total 289 2404 139 11 0.11564059900166389 0.009151414309484194 0.1202
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) 1.784
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