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2:234255547 G / A

Warning! This variant is found in phase with 2-234255548-T-C in 10 individuals, altering its functional interpretation
.

Filter Status
PASS
dbSNP
rs1046974
Allele Frequency
0.3909
Filtering AF
0.4538 (South Asian)
Allele Count
42695 / 109216
UCSC
2-234255547-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 10 transcripts in 2 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) 26487 61374 5400 0.4316
East Asian 3383 7790 653 0.4343
Other 329 830 67 0.3964
African 1010 8490 57 0.119
Latino 2075 9680 231 0.2144
South Asian 6933 14976 1550 0.4629
European (Finnish) 2478 6076 497 0.4078
Total 42695 109216 8455 0.3909

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.