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17:41246481 T / C


Filter Status
PASS
dbSNP
rs1799950
Allele Frequency
0.04407
Filtering AF
0.06132 (European (Non-Finnish))
Allele Count
5350 / 121396
UCSC
17-41246481-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 28 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) 4198 66734 139 0.06291
East Asian 1 8654 0 0.0001156
Other 58 908 1 0.06388
African 96 10400 0 0.009231
Latino 257 11578 5 0.0222
South Asian 222 16508 5 0.01345
European (Finnish) 518 6614 26 0.07832
Total 5350 121396 176 0.04407

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.