Interested in working on the development of this resource? Apply here.

6:31324599 T / G

Warning! This variant is found in phase with 6-31324598-C-A in 1 individuals, altering its functional interpretation
.

Warning! This variant is only covered in 37062 individuals (adjusted allele number = 74124).
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
rs1050538
Allele Frequency
0.02565
Filtering AF
0.05307 (East Asian)
Allele Count
1901 / 74124
UCSC
6-31324599-T-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 8 transcripts in 2 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) 959 43258 28 0.02217
East Asian 223 3750 17 0.05947
Other 12 528 1 0.02273
African 59 6382 0 0.009245
Latino 162 7226 4 0.02242
South Asian 325 8982 24 0.03618
European (Finnish) 161 3998 12 0.04027
Total 1901 74124 86 0.02565

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.