Interested in working on the development of this resource? Apply here.

1:62380298 G / A

Warning! This variant is found in phase with 1-62380299-G-C in 104 individuals, altering its functional interpretation
. Note: This variant is found in phase with 1-62380300-T-C in 2 individuals.

Filter Status
PASS
dbSNP
rs1056513
Allele Frequency
0.5643
Filtering AF
0.6311 (European (Non-Finnish))
Allele Count
68224 / 120890
UCSC
1-62380298-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) 42298 66484 13495 0.6362
East Asian 4869 8604 1353 0.5659
Other 529 904 159 0.5852
African 1540 10292 133 0.1496
Latino 5602 11504 1372 0.487
South Asian 9265 16490 2630 0.5619
European (Finnish) 4121 6612 1302 0.6233
Total 68224 120890 20444 0.5643

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.