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6:31238009 T / C

Warning! This variant is found in phase with 6-31238008-C-A in 1 individuals, altering its functional interpretation
. Note: This variant is found in phase with 6-31238010-T-G in 11634 individuals.

Warning! This variant is only covered in 38430 individuals (adjusted allele number = 76860).
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
rs41551714
Allele Frequency
0.1876
Filtering AF
0.3226 (African)
Allele Count
14417 / 76860
UCSC
6-31238009-T-C
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 9 transcripts in 1 genes:

missense synonymous
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) 7304 45592 896 0.1602
East Asian 1296 4742 273 0.2733
Other 128 564 22 0.227
African 1908 5694 510 0.3351
Latino 1401 7038 199 0.1991
South Asian 1563 9202 241 0.1699
European (Finnish) 817 4028 111 0.2028
Total 14417 76860 2252 0.1876

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.