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7:31008686 G / A


Warning! This variant is only covered in 19810 individuals (adjusted allele number = 39620).
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
rs4988496
Allele Frequency
0.1148
Filtering AF
0.3253 (African)
Allele Count
4547 / 39620
UCSC
7-31008686-G-A
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
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) 1859 19538 54 0.09515
East Asian 309 2846 15 0.1086
Other 26 292 3 0.08904
African 1827 5402 262 0.3382
Latino 142 1506 4 0.09429
South Asian 354 9070 11 0.03903
European (Finnish) 30 966 0 0.03106
Total 4547 39620 349 0.1148

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.