Variant: 6:131897806 C / T

Filter Status: PASS
dbSNP: rs104893944
Allele Frequency: 4.123e-05
Filtering AF: 3e-05 (Latino)
Allele Count: 5 / 121270
UCSC: 6-131897806-C-T
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 7 transcripts in 2 genes:

stop gained

ARG1
- ENST00000356962 * (p.Arg21Ter)
  LoF: High-confidence
- ENST00000368087 (p.Arg21Ter)
  LoF: High-confidence

non coding transcript exon

ARG1
- ENST00000484820 ()
  LoF: Low-confidence (Non-protein-coding gene)
- ENST00000498260 ()
  LoF: Low-confidence (Non-protein-coding gene)

intron

MED23 - ENST00000354577 ()
LoF: Low-confidence (Non-protein-coding gene)
ARG1
- ENST00000275196 ()
  LoF: Low-confidence (Non-protein-coding gene)
- ENST00000469293 ()
  LoF: Low-confidence (Non-protein-coding gene)

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	Allele Frequency
European (Non-Finnish)	3	66686	4.499e-05
East Asian	0	8634	0
Other	0	908	0
African	0	10396	0
Latino	2	11538	0.0001733
South Asian	0	16506	0
European (Finnish)	0	6602	0
Total	5	121270	4.123e-05

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.