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4:187113041 C / G


Warning! This variant is only covered in 34413 individuals (adjusted allele number = 68826).
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
rs1055138
Allele Frequency
0.5289
Filtering AF
0.569 (European (Non-Finnish))
Allele Count
36404 / 68826
UCSC
4-187113041-C-G
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 2 genes:

missense
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) 22624 39328 5563 0.5753
East Asian 1619 4266 197 0.3795
Other 238 448 57 0.5312
African 2568 5098 528 0.5037
Latino 2948 5974 506 0.4935
South Asian 5282 11776 1109 0.4485
European (Finnish) 1125 1936 258 0.5811
Total 36404 68826 8218 0.5289

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.