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12:9232268 T / C

Warning! This variant is found in phase with 12-9232267-A-G in 1 individuals, altering its functional interpretation
.

Filter Status
PASS
dbSNP
rs669
Allele Frequency
0.3102
Filtering AF
0.3943 (Latino)
Allele Count
37096 / 119582
UCSC
12-9232268-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 1 genes:

missense 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) 22423 66200 3817 0.3387
East Asian 799 8582 32 0.0931
Other 285 882 43 0.3231
African 3079 9748 501 0.3159
Latino 4568 11304 931 0.4041
South Asian 3257 16308 357 0.1997
European (Finnish) 2685 6558 575 0.4094
Total 37096 119582 6256 0.3102

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.