Variant: 6:31238155 G / A

Filter Status: PASS
dbSNP: rs76367545
Allele Frequency: 0.3375
Filtering AF: 0.5461 (East Asian)
Allele Count: 39707 / 117666
UCSC: 6-31238155-G-A
ClinVar: Click to search for variant in Clinvar

Genotype Quality Metrics

Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above

Site Quality Metrics

Note: These are site-level quality metrics: they may be unpredictable for multi-allelic sites.

Annotations

This variant falls on 9 transcripts in 1 genes:

missense

HLA-C
- ENST00000376228 * (p.Arg243Trp)
  Polyphen: benign; SIFT: deleterious_low_confidence
- ENST00000383329 (p.Arg243Trp)
  Polyphen: benign; SIFT: deleterious_low_confidence

3' UTR

HLA-C - ENST00000376237

non coding transcript exon

HLA-C

intron

HLA-C - ENST00000415537

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)	19337	64450	2793	0.3
East Asian	4738	8470	1310	0.5594
Other	292	892	58	0.3274
African	3391	9660	624	0.351
Latino	4572	11364	892	0.4023
South Asian	4330	16318	627	0.2654
European (Finnish)	3047	6512	694	0.4679
Total	39707	117666	6998	0.3375

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.