Variant: 5:131676320 C / T

Warning! This variant is found in phase with 5-131676322-C-A in 1 individuals, altering its functional interpretation

Filter Status: PASS
dbSNP: rs1050152
Allele Frequency: 0.2913
Filtering AF: 0.4158 (European (Non-Finnish))
Allele Count: 35363 / 121408
UCSC: 5-131676320-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 3 transcripts in 2 genes:

missense

SLC22A4 - ENST00000200652 * (p.Leu503Phe)
Polyphen: benign; SIFT: tolerated

intron

AC034220.3
- ENST00000417795 *
- ENST00000437091

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)	28024	66740	5887	0.4199
East Asian	18	8654	0	0.00208
Other	294	908	49	0.3238
African	761	10406	38	0.07313
Latino	2286	11576	266	0.1975
South Asian	1899	16512	126	0.115
European (Finnish)	2081	6612	327	0.3147
Total	35363	121408	6693	0.2913

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.