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

2:38302390 G / C


Warning! This variant is only covered in 38693 individuals (adjusted allele number = 77386).
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
rs10012
Allele Frequency
0.3777
Filtering AF
0.5371 (African)
Allele Count
29232 / 77386
UCSC
2-38302390-G-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 2 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) 14718 42496 2050 0.3463
East Asian 1180 5074 95 0.2326
Other 203 516 32 0.3934
African 3920 7108 977 0.5515
Latino 2474 5984 341 0.4134
South Asian 5410 13270 1062 0.4077
European (Finnish) 1327 2938 216 0.4517
Total 29232 77386 4773 0.3777

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.