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6:31323991 C / G


Warning! This variant is only covered in 44125 individuals (adjusted allele number = 88250).
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
VQSRTrancheSNP99.80to99.90
dbSNP
rs1050692
Allele Frequency
0.09755
Filtering AF
0.1155 (European (Non-Finnish))
Allele Count
8609 / 88250
UCSC
6-31323991-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 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) 6001 50844 136 0.118
East Asian 171 6134 4 0.02788
Other 58 612 2 0.09477
African 712 6628 17 0.1074
Latino 582 6516 14 0.08932
South Asian 720 12528 18 0.05747
European (Finnish) 365 4988 6 0.07318
Total 8609 88250 197 0.09755

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.