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20:23618427 C / T


Warning! This variant is only covered in 7560 individuals (adjusted allele number = 15120).
This means that the site is covered in fewer than 80% of the individuals in ExAC, which may indicate a low-quality site.


Filter Status
PASS
dbSNP
rs1064039
Allele Frequency
0.2549
Filtering AF
0.2781 (South Asian)
Allele Count
3854 / 15120
UCSC
20-23618427-C-T
ClinVar
Click to search for variant in Clinvar
Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above

Note: These are site-level quality metrics: they may be unpredictable for multi-allelic sites.

Annotations

This variant falls on 3 transcripts in 1 genes:

Note: This list may not include additional transcripts in the same gene that the variant does not overlap.
Population Frequencies
Population Allele Count Allele Number Number of Homozygotes Allele Frequency
European (Non-Finnish) 1166 5294 115 0.2202
East Asian 26 266 1 0.09774
Other 19 144 1 0.1319
African 365 1450 34 0.2517
Latino 50 236 6 0.2119
South Asian 2224 7720 328 0.2881
European (Finnish) 4 10 1 0.4
Total 3854 15120 486 0.2549

Read Data

This interactive IGV.js visualization shows reads that went into calling this variant.
Note: These are reassembled reads produced by GATK HaplotypeCaller --bamOutput so they accurately represent what HaplotypeCaller was seeing when it called this variant.