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12:122295335 T / C

Note: This variant is found in phase with 12-122295333-C-T in 1 individuals.
Warning! This variant is found in phase with 12-122295334-G-A in 15 individuals, altering its functional interpretation
.

Filter Status
PASS
dbSNP
rs1154510
Allele Frequency
0.8502
Filtering AF
0.9465 (African)
Allele Count
103191 / 121370
UCSC
12-122295335-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 5 transcripts in 2 genes:

missense 5' UTR
non coding transcript exon
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) 57610 66716 24898 0.8635
East Asian 7368 8648 3146 0.852
Other 774 908 330 0.8524
African 10011 10404 4816 0.9622
Latino 8328 11572 3009 0.7197
South Asian 13977 16512 5950 0.8465
European (Finnish) 5123 6610 2010 0.775
Total 103191 121370 44159 0.8502

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.