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17:79767715 G / A


Warning! This variant is only covered in 8374 individuals (adjusted allele number = 16748).
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
rs1801483
Allele Frequency
0.008359
Filtering AF
0.00796 (South Asian)
Allele Count
140 / 16748
UCSC
17-79767715-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 6 transcripts in 1 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) 56 6594 0 0.008493
East Asian 0 296 0 0
Other 3 158 0 0.01899
African 2 1622 0 0.001233
Latino 3 250 0 0.012
South Asian 76 7820 1 0.009719
European (Finnish) 0 8 0 0
Total 140 16748 1 0.008359

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.